Objective To explore the importance of gene diagnosis and prenatal diagnosis of spinal muscular atrophy(SMA),and improve the clinical diagnosis of SMA by analyzing the electrophysiological and gene characteristics of SMA.Methods Fifteen cases with SMA including 9 male and 6 female were enrolled in this study.The age was 5 months to 12 years.The 15 cases were subdivided into 3 clinical types,5 cases of type Ⅰ including 3 male and 2 female aging 5-18 months;7 cases of type Ⅱ including 4 males and 3 females aging 5 months-3 years;3 cases of type Ⅲ including 2 male and 1 female aging 3-12 years.They were all characterized by symmetric muscle weakness(more proximal than distal)associated with atrophy,absence or marked decrease of deep tendon reflexes,loss of voluntary movement and inability to sit or stand.The clinical characteristics and changes of electromyography(EMG)and nerve conduction velocity were assessed in all cases by using Danish Medoc Keypoint myoelectricity and evoked potentials inducer.The survival of motor neuron(SMN)gene was detected by PCR and restriction endonuclease spectrum analysis in 10 cases.Results EMG analysis found 94% patients had spontaneous potential,90% patients had increased duration of motor unit,and amplitude increased in 89% patients.Motor nerve conduction velocity was determined in 78 nerves.Motor nerve compound action potential wave amplitude decreased in 52 nerves,among them,distal latent period prolonged and motor conduction velocity reduced slightly in 36 nerves.Sensory nerve conduction velocity was determined in 45 nerves and remained normal.The SMN gene detection revealed deletion of exon 7 and 8 in 9 cases,deletion exon 7 in 1 case.The SMN gene detection in 10 patients and their parents didn't find any deletion of exon 7 and 8.Conclusions The definite diagnosis of SMA will rely on the typical clinical characteristics,changes of EMG and gene deletion analysis.Gene diagnosis of SMA lays a basis for prenatal diagnosis.

Atherosclerosis ; diagnosis ; metabolism ; Biomarkers ; Humans ; Proteomics

In order to increase the production of insecticidal crystal proteins Cry1 and Cry2, firstly, Plack-ett-Burman design was applied to evaluate the effectiveness of the related nutrition factors; it was found that the soybean powder and MnSO4?H2O were significant factors for Cry1 production, but the yield of Cry2 wasn’t effected remarkably in such medium. Then the steepest ascent experiment was adopted to approach the optimal region of the medium composition. Lastly, the optimal concentration of the soybean powder and MnSO4?H2O was 11.5 and 0.02 g/L, obtained by response surface methodology (RSM). The final yields of Cry1 and Cry2 was 0.32 mg/mL and 0.11 mg/mL, increasing twice more than that in the medium optimized before. The median lethal concentration (LC50) of optimal medium was 1.09 ?L/mL. The toxicity to Heli-coverpa armigera was significantly enhanced than the old one.

One new sesquiterpene was isolated from the fermentation broth of Streptomyces sp. and the structure was elucidated by spectral analysis as caryolane-1, 6beta-diol (1). An intermediate 1alpha, 6beta, 11-eudesmanetriol (2) in the biosynthesis of geosmin was also found in this strain which proved sequence for the reactions, especially bicyclization preceding dealkylation.

ObjectiveTo observe the protective effect of extract from Morindae officinalis on the oxidative injury of human sperm motility.MethodsThe sperm specimens were cultivated in vitro, the reactive oxygen species (ROS) was made from hypoxanthine-xanzine xanzine (HX-XO), and sperm specimens were co-incubated with ROS and different dosages of extract and oxygen. The motor parameters were evaluated, the motility were analyzed by the test of capillary tube penetrating, and compared with the control group.ResultsThe sperm function were injured, the motility and penetrating ability decreased evidently under the action of ROS, and with a significant difference compared with the normal group ( P<0.001). The sperm motility and penetrating ability could be improved by all of the small, medium and massive extract compared with vitamin C, especially 0.25 and 0.5 g/ml Morindae officinalis had more evident action in the rate of progressive motility and vitality exponent.ConclusionThe ROS can injury the sperm motility and penetrating ability, the appropriate content of extract from Morindae officinalis can significantly intervene peroxidation in sperm by the ROS, and protect the sperm motility.

OBJECTIVETo summarize the clinical experience about surgical treatment of aortic dissection.

METHODSThe clinical data of 51 patients with aortic dissection admitted from December 2004 to December 2006 were analyzed retrospectively. There were 35 male and 16 female patients with a mean age of 55.7 years (ranged from 18 to 83-years-old). Twenty-seven patients of type I was performed under deep hypothermic circulatory arrest and selected cerebral perfusion with stent-graft which was implanted into the descending aorta through aorta arch. Five patients of type II was performed including Bentall operation in 3 patients, Wheat operation in 1 patient, ascending aorta replacement in 1 patient. Nineteen patients of type III was performed with stent-graft which was implanted into the descending aorta through aorta arch under deep hypothermic circulatory arrest.

RESULTSThe time of cardiopulmonary bypass (CPB) in type I patients was 250 to 290 min with an average of (274 +/- 53) min, and the arrest time was 40 to 59 min with an average of (53 +/- 14) min. CPB time of type II patients was 130 to 159 min with an average of (146 +/- 43) min, and the cross clamp time was 60 to 79 min with an average of (66 +/- 15) min. CPB time of type III patients was 240 to 280 min with an average of (260 +/- 28) min, and the arrest time was 20 to 27 min with an average of (24 +/- 3) min. The mean hemorrhage volume of the entire group was (500 +/- 250) ml. The mean ICU retention time was (5.0 +/- 1.5) d and the length of stay was (15.0 +/- 2.5) d. Three patients died during perioperative period. Two patients appeared cerebrovascular accident after operation. One patient appeared descending aorta dilation in the follow-up of 2 to 21 months.

CONCLUSIONDifferent clinical manifestations and treatment should be selected according to the different condition of aortic dissection aneurysm.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Aneurysm, Dissecting ; surgery ; Aorta, Thoracic ; surgery ; Aortic Aneurysm, Thoracic ; surgery ; Blood Vessel Prosthesis Implantation ; Female ; Humans ; Male ; Middle Aged ; Stents

The aim of this study is to develop a convenient and effective method for the identification of heparin from pigs (include Sus scrofa domestica Brisson and Sus scrofa riukiuanus). Based on sequences of D-loop region of pigs and the other animals, two pairs of highly specific primers were designed for distinguishing heparin of pigs from other animals. The primers were employed to amplify D-loop region of DNA templates extracted from pig and seven other animal species that amounted to 49 samples. AS-PCR (allele-specific PCR) and ARMS (amplification refractory mutation system) were all suitable for fast identification of heparin from pig with anneal temperature at 54-56 degrees C in AS-PCR and with wider anneal temperature in ARMS,at 52-58 degrees C. An about 170 bp DNA fragments were amplified from separately pigs and whereas no DNA fragment was amplified from other samples under the same reaction condition.
Alleles ; Animals ; Base Sequence ; DNA Mutational Analysis ; methods ; DNA Primers ; DNA, Mitochondrial ; genetics ; Drug Contamination ; prevention & control ; Heparin ; analysis ; genetics ; Horses ; genetics ; Molecular Sequence Data ; Phylogeny ; Polymerase Chain Reaction ; methods ; Quality Control ; Ruminants ; genetics ; Sequence Alignment ; Sequence Analysis, DNA ; Sus scrofa ; genetics

Objective: To investigate the incidence of CMV infection(CMV-I) and CMV related diseases (CMV-D) after allogeneic hematopoietic stem cells transplantation in 70 consecutive allogeneic hematopoietic stem cells transplantation(allo-HSCT) patients and to search for the optimal prophylactic strategy.Methods: Blood samples were monitored using the CMV pp65 antigenemia assay.Of the 70 patients observed,30 patients with chronic myeloid leukemia［CML:CP(27),AP(2),BC(1)］,12 with acute myeloblastic leukemia(AML),10 with acute lymphoblastic leukemia(ALL)and other cases were NHL(3), AA(5), MDS(7), SCLC with pancytopenia (1),CLL(1), and MF (1). Sixty six patients received HLA - identical siblings transplantation and four received tranplants from their HLA- haploidentical donors. Seventy cases included allo-PBPCT (64 cases) , allo-BMT (4 cases) and allo-PB+BMT (2). Before transplantation, all patients and donors received CMV serological examination except 4 pairs of donors/recepients. All 66 patients (3 cases were CMV IgM positive) and 64/66 donors were CMV IgG positive. Results：After transplantation, 64/70 patients developed CMV viremia during monitoring period. Forty three of 70 patients developed CMV-D.Thirty five of them suffered from CMV-associated interstitial pneumonia(CMV-IP). The high peak levels of CMV antigenemia were associated with development of CMV disease　. Close correlation was found between acute graft vs host disease(GVHD) and CMV disease. The patients were followed up for 2 to 24 months. The patients who received preemptive therapy(group A)had significantly better outcome than CMV disease group(group B, P=0.0001). Conclusions: The results suggest that CMV antigenemia has high predictive value for subsequent CMV disease and CMV pp65 antigenemia -guided early therapy has particular advantage for avoiding morbidity and mortality caused by CMV disease.

BACKGROUND:Macromolecule crowding agents exert a certain effect on collagen,glycosaminoglycans and growth factors in the extracellular matrix.OBJECTIVE:To summarize the effects of macromolecule crowding agents on the extracellular matrix and their applications in various cells or tissues.METHODS:"Macromolecular crowding,MMC,Tissue Engineering,Collagen" were used as key words to retrieve articles addressing the application of macromolecular crowding agents in the extracellular matrix and in the tissue engineering in PubMed,NCBI,CNKI from 2001 to 2017.RESULTS AND CONCLUSION:Macromolecule crowding agents can increase the deposition of extracellular matrix components,such as collagen,glycosaminoglycans and growth factors,to promote osteoblast adhesion,migration,growth and differentiation,as well as to promote the development of regenerative medicine in bone tissue engineering.However,some roles and mechanisms of macromolecule crowding agents have yet to be found or confirmed,and whether they can produce toxic effects in the human body has yet to be confirmed.Therefo further experimental research on these problems is warranted.

Objective　To evaluate the role of transfected angiotensinⅡ(Ang Ⅱ) receptor AT1 anti-sense nucleotide (AT1A) in the expression of subtypes of AngⅡ receptor mRNA, synthesis of protein and nucleic acid in cardiomyocytes. Methods　AT1 cDNA sequence (476 bp) was cloned with RT-PCR and reversely inserted into PcDNA3.1 (5.4 kb) to construct an intact plasmid containing AT1A (PAT1A). The plasmid was then transfected into the cultured cardiomyocytes and identified with RT-PCR and Western blot. The synthesis of protein and nucleic acid identified by 3H-Leu and 3H-TdR incorporation, and expressions of AT1 and AT2 mRNA by RT-PCR, were compared between transfected and nontransfected cardiomyocytes after being stimulated with 10-7 mol/L AngⅡ for 24 h. Results　The plasmid PAT1A were successfully constructed. The AT1 mRNA and its protein were expressed significantly less in the transfected cardiomyocytes than in the control (P<0.01). In the transfected cardiomyocytes, AT1 mRNA expression was markedly decreased, but that of AT2 mRNA obviously increased (P<0.01) when compared with the nontransfected cardiomyocytes after stimulation for 24 h with AngⅡ 10-7 mol/L; no significant difference was found in 3H-Leu and 3H-TdR incorporation between them. Conclusion　After the cardiomyocytes was tranfected with AT1A, the expression of AT1 mRNA was markedly suppressed，while AT2 mRNA up-regulated at the same time. Our results indicate that AT1A blocking can not effectively interrupt the Ang Ⅱ-induced synthesis of the protein and nucleic acid in cardiomyocytes.