Cardiomyopathy, Restrictive ; diagnosis ; surgery ; Diagnosis, Differential ; Humans ; Infant ; Male

Objectives To provide prenatal diagnosis and genetic counseling for four athigh-risk pregnant women with a suspected family or personal history of fragile X syndrome (FXS) by genetic screening of fragile X mental retardation (FMR1) gene.Methods This study was conducted on four pregnant women (No.l to 4) who received outpatient treatment in Peking University First Hospital from August 2014 to June 2016.Genomic DNA was extracted from peripheral blood samples of the pregnant women and six of their family members,four of which were suspected or confirmed FXS and the other two were FMR1 gene carriers.Amplide X kits were used to detect CGG repeat size in FMR1 gene.Two amniocytes and one chorionic villi samples were collected from three pregnant women to extract DNAs for FMR1 gene and karyotyping analyses.Results There were patients diagnosed with FXS in all the families by detecting CGG repeat numbers in FMR1 gene.The pregnant woman No.1 was a permutation carrier;No.2 carried normal FMR1 alleles while her brother had a mutation with over 20 CGG repeats in FMRI gene at chromosome X.No.3 and 4 were full mutation carriers with over 200 CGG repeats in FMR1 gene.After genetic counseling,No.3 decided to terminate the pregnancy due to abnormal fetal karyotype (47,XY,+21) and full mutation of FMR1 alleles.No.1 and 4 continued to pregnancy as their fetuses were normal in FMR1 alleles and karyotype.No.2 continued to pregnancy as her fetus was free of FXS risk.Conclusions Prenatal diagnosis and genetic counseling should be conducted on women at highrisk for FXS to avoid birth defects.People with a family history of FXS should be tested for FMR1 gene carrier status.

A finite element model of cervical spine was three-dimensionally reconstructed through computed tomography (CT) scan, recording the edges of image using Snigraphics V18.0 software, and calibrating in sequence of point, line, area, and solid. The stress distribution of cervical C_(3-4) was analyzed using compute aided design to validate the availability of reconstructed models. Results showed that the three-dimensional finite element cervical C_(3-4) was feasible in simulation analysis. These indicate that the established three-dimensional finite element models can simulate biomechanical experiments, providing foundations for analyzing biomechanical performance of local structure of this finite element model under various pressure conditions.

Abdominal Neoplasms ; secondary ; surgery ; Abdominal Wall ; Antiporters ; metabolism ; Choriocarcinoma ; pathology ; Diagnosis, Differential ; Epithelioid Cells ; pathology ; Female ; Gestational Trophoblastic Disease ; metabolism ; pathology ; secondary ; surgery ; Humans ; Pregnancy ; Uterine Neoplasms ; metabolism ; pathology ; surgery ; Young Adult

The article introduces a new method for three-dimensional reproduction of edentulous dental casts, and wax occlusion rims with jaw relation by using a commercial high-speed line laser scanner and reverse engineering software and evaluates the method's accuracy in vitro. The method comprises three main steps: (i) acquisition of the three-dimensional stereolithography data of maxillary and mandibular edentulous dental casts and wax occlusion rims; (ii) acquisition of the three-dimensional stereolithography data of jaw relations; and (iii) registration of these data with the reverse engineering software and completing reconstruction. To evaluate the accuracy of this method, dental casts and wax occlusion rims of 10 edentulous patients were used. The lengths of eight lines between common anatomic landmarks were measured directly on the casts and occlusion rims by using a vernier caliper and on the three-dimensional computerized images by using the software measurement tool. The direct data were considered as the true values. The paired-samples t-test was used for statistical analysis. The mean differences between the direct and the computerized measurements were mostly less than 0.04 mm and were not significant (P>0.05). Statistical significance among 10 patients was assessed using one-way analysis of variance (P<0.05). The result showed that the 10 patients were considered statistically no significant. Therefore, accurate three-dimensional reproduction of the edentulous dental casts, wax occlusion rims, and jaw relations was achieved. The proposed method enables the visualization of occlusion from different views and would help to meet the demand for the computer-aided design of removable complete dentures.
Analysis of Variance ; Computer-Aided Design ; Dental Models ; Denture Design ; Denture, Complete ; Dimensional Measurement Accuracy ; Humans ; Imaging, Three-Dimensional ; methods ; Jaw Relation Record ; Lasers ; Mouth, Edentulous ; rehabilitation ; Waxes

Aim To explore the role of endoplasmic re-ticulum stress( ERS) in Astragaloside Ⅳ-induced car-dioprotection against ischemia/reperfusion injury in rats. Methods A model of myocardial ischemia 30 min followed by 120 min reperfusion was made by liga-ting coronary artery in male Wistar rats. Rats were di-vided randomly into 4 groups: sham group, ischemia/reperfusion group, ERS inhibitor TUDCA group, As-tragaloside Ⅳgroup. Myocardial samples were collect-ed from the risk zones during ischemia and reperfu-sion, ERS was determined by measuring levels of glu-cose regulated protein 78 ( GRP78 ) , an established marker of ERS with Western blot. Immunofluorescence study was used to test GRP78 intensity with laser scan-ning confocal microscopy, TTC method was used to measure the infarct size,hematoxylin-eosin staining was used to observe the changes of morphological changes of myocardium. Results There was no statistical difference in GRP78 expression during ischemia com-pared to the sham group, but was markedly increased upon reperfusion. Astragaloside Ⅳ could mimic TUD-CA and significantly decreased the GRP78 expression, reduced infarct size and improved the morphology of myocardial tissue with a significant statistical difference compared with the control group ( P<0. 05 ) . Conclu-sions ERS is induced upon reperfusion but not during ischemia in isolated rat hearts. Astragaloside Ⅳ pre-vents myocardial reperfusion injury presumably by the inhibition of ERS.

Objective To investigate the dynamic changes of the spinal cord during neck flexion in Hirayama disease for diagnosis.Methods MRI examinations in neutral neck position and a fully flexed neck position were performed on 18 cases of Hirayama disease and 31 young normal control subjects.We measured an antero-posterior diameter(APD)and transverse diameter(TD)of the cervical cord at the superior margin of the C6 vertebral body for each position,and investigate the dynamic changes.The different in frequency of these findings between the control and patient groups was examined by means of the x~2 test.The group means were compared by independent-sample t-test.Significance was defined as P

Experiment teaching is a most important item of college teaching, and plays a vital and unexchangeable role to train students for their ability to practice and to innovate. To construct a feasible and scientific examination system of experiment teaching, will significantly help deepen the reformation of experiment teaching and improve the teaching quality. So according to the request for cultivating qualified ap- plication person, we preliminarily constitute the valuation system throughout the whole course and in the final, of theoretic examination and practice examination, and combined with students’ self-valuation and valuation from teachers. In fact, the system works well with a perfect effect.

Objective:to investigate the clinical feature and dynamic changes of the cervical dural sac and spinal cord during neck flexion in Hirayama disease(juvenile muscular atrophy of distal upper extremity).Methods:Clinical data were taken and MRI in neutral neck position and a fully flexed neck position were performed on 27 cases of Hirayama disease.Results:(1)All patients were consistent with the diagnostic criteria of Hirayama disease who had asymmetric muscular atrophy and weakness of the hand and forearm.All patients were young males and right handed of whom 77.8% had initial symptoms before they were 19 years old.More patients(20 cases,74%)had muscular atrophy in the right hand than in the left at onset.The duration after disease onset was from 2-72 months[(26.48?15.57)months].(2)In neutral neck position by MIR examination,16 patients showed abnormal cervical curvature,14 showed atrophy of the lower cervical cord and 2 patients had intramedullary abnormal high signal.(3)In a fully flexed position of the neck,all patients showed forward displacement and flattening of the lower cervical cord,and a crescent-shaped high signal area behind the cord.(4)The crescent-shaped area was enhanced on T1-weighed imaging and disappeared after the patient returned to a neural position in one case.Conclusion:Hirayama disease occurs mainly in young males.There are obviously dynamic changes of the cervical cord during neck flexion in Hirayama disease by MRI examination,which can help the doctor make diagnosis in the early stage.

AIMTo study the synthesis of 5-(3'-indolyl)-oxazoles and their antioxidative activity.

METHODSThe amides were prepared from tryptophan and different acid derivatives by the catalytic dehydration of dicyclohexyl carbodiimide (DCC). The characteristic heterocyclic ring system of 5-(3'-indolyl)-oxazoles was constructed by oxidative cyclization of amide, using dicholorodicyanoquinone (DDQ). Their antioxidative activity in vitro was tested using DPPH system.

RESULTSEleven 2-substituted phenyl-5-(3'-indolyl)-oxazoles were prepared, the compounds 21 and 22 have shown antioxidative activity 3-4 times stronger than that of Vit E, and the compound 29 showed antioxidative activity almost as same as Vit E.

CONCLUSIONThree 5-(3'-indoyl)-oxazole compounds synthesized showed potent antioxidative effect and they would be a good antioxidants.

Antioxidants ; chemical synthesis ; chemistry ; Indoles ; chemistry ; isolation & purification ; Molecular Structure ; Oxazoles ; chemistry ; isolation & purification