Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy,and explore the clinical significance of genetic diagnosis. Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.The serum creatine phosphokinase was examined,and nerve conduction velocity was tested in median nerve,ulnar nerve,tibial nerve and peroneal nerve.The parameters such as distal motor latency,motor nerve conduction velocity and amplitude of compound motor active potential were analysed.Electromyography was performed in no less than four muscles,and the insertion potential,spontaneous potential and motor unit action potential were observed.Deletion of exon 7 in SMN1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results All these infants were characterized by progressive flaccid paralysis in limbs.In all cases,amplitude of muscle response was significantly decreased,with prolonged distal latency and slowed conduction velocity.Electromyography demonstrated motoneuron degeneration.Deletion of exon 7 in SMN1 gene was detected in all 13 infants. Conclusion There are unique clinical and electrophysiology features for infantile spinal muscular atrophy,and electromyography may play an important role in the diagnosis.Prenatal genetic diagnosis may help to avoid the birth of this kind of infants.

Objective To study the clinical effect of tension-free hernia repair in inguinal emergency hernia. Methods The tension-free hernia repair was administered in 83 patients with inguinal emergency hernia.All the cases were analyzed retrospectively.Results There were two postoperative deaths in 83 cases within three days after operation.Wound infection occurred in one case.The rest recovered soon.The average stay in hospital was 5.1 days. Conclusion The tension-free hernia repair can be applied to inguinal emergency hernia with satisfactory results.

Objective To investigate symptom characteristics and their their prevalence in terminally ill patients with ovarian carcinoma.Methods A retrospective study was carried out based on clinical data of 98 terminally ill patients with ovarian carcinoma who died in our hospital during January 1995 to December 2004.Fifteen most common symptoms were analyzed with a focus on the followings:symptom incidence,survival time after symptom occurrence,regularity of symptom cluster,and common causes of death.Fifteen symptoms were:pain,cachexia,pleural effusion and ascites,dyspnea,fever,intestinal obstruction,renal failure,bone marrow depression,lung infection,hemorrhage,deep venous thrombosis (DVT),intestinal or pancreatic fistula,mycotic infection,jaundice and emergency conditions.Results (1)The most prevalent symptom was pleural effusion and ascites(63%),followed by pain(60%), cachexia(59%),dyspnea(52%)and intestinal obstruction(49 %).(2)The symptom which lasted longest survival time was mycotic infection(77 days),followed by intestinal or pancreatic fistula(75 days), intestinal obstruction(67 days),pain(60 days)and eachexia(60 days).Symptoms such as bone marrow depression,renal failure,dyspnea and emergency conditions were comparatively critical associated with shorter survival times(14,13,12,7 days,respectively).(3)Terminal symptoms occurred typically in clusters,with 4.9?1.5 symptoms per case.Of 98 cases,84 cases(86%)had 4 or more symptoms,with the median survival time of 63 days from the last day of anti-cancer therapy,and a slow death process.The remaining 14 cases(14%)with 3 or fewer symptoms survived only 25 days,of which 10 cases(71%)died of emergency diseases.The survival time for two groups was significantly different(P

Background Fundus photography is a traditional method for detecting local retinal nerve fiber layer (RNFL) defects,but the evaluation of its result depends on the observer's experience.The spectral domain optical coherence tomography (OCT) exhibit the defects of RNFL very clearly.Objective This study was to evaluate the diagnosis value and correlation between topographic profiles of localized RNFL defects determined by spectral domain and time domain OCT with fundus photography.Methods Forty-one normal eyes of 41 subjects and 55 eyes of 55 glaucomatous patients with localized,wedge-shaped RNFL defects identified by two glaucoma specialists in fundus photographs were enrolled in the clinical study.The angular location and width of RNFL defects determined on the images of fundus photography,Cirrus HD-OCT and Stratus OCT were analyzed respectively using Pearson's correlation coefficient and linear regression analysis.This study followed the Helsinki declaration and was approved by Ethic Committee of Shenzhen Eye Hospital.Written informed consent was obtained from each individual before the clinical examination.Results Seventy-five RNFL defects were identified in 55 eyes by two glaucoma specialists unanimously with the defect position at superior-temporal and inferior-temporal quadrants.The sensitivity of Cirrus HD-OCT and Stratus OCT to determining RNFL defects were 88.0% and 69.3% respectively and their specificities were 92.7% and 97.6% respectively.The angular locations of RNFL defects by Cirrus HD-OCT and Stratus OCT were highly correlated with those by fundus photography(r=0.993,r=0.992,P＜0.001);while the angular widths of RNFL defects by Cirrus HD-OCT and Stratus OCT were moderately correlated with those by fundus photography(r=0.420,r=0.432,P=0.019,P=0.002).No significant differences were found in the defect width of RNFL between Cirrus HD-OCT or Stratus OCT and fundus photography(Cirrus HD-OCT:P=0.114;Stratus OCT:P=0.074),and significant difference was found in that between Cirrus HD-OCT and Stratus OCT(P=0.002).Conclusion Spectral domain OCT and time domain OCT can localize RNFL defects with high sensitivity and specificity.The measure value of Cirrus HD-OCT and Stratus OCT for RNFL defects shows a good diagnostic agreement with fundus photography.

Objective To study the induction of integrin molecules mediated by CYR61 in human peripheral blood mononuclear cells(PBMC). Methods A recombinant expression plasmid containing full length of human CYR61 labeled with human IgG Fc fragment was constructed and identified by DNA sequencing.COS7 was used as host cell for identification of secretary CYR61 expression,confirmed by Western blot method.The commercial lipofectin was adopted for recombinant plasmid transfection into PBMC.Real-time PCR was ultilized to analyze expression patterns of CYR61 and integrin molecules in transfected PBMC. Results The insert sequence was correct in the recombinant plasmid.Western blot test showed that CYR61 protein secreted into culture supernatant or was in COS7 cytoplasm.The recombinant plasmid was transfected into PBMC stimulated with phytohemagglutinine(PHA) to induce CYR61 expression and secretion.The results demonstrated that exogenous CYR61 transcribed rapidly after being incubated with PHA and reached the peak after 24 h.But the expression dropped down quickly to a very low level after 48 h.Simultaneously,integrin molecules expressed just after CYR61 transcription.In the set of integrin molecules tested in the study,?v,?M,?3 and ?5 expression were higher than the other integrin molecules(P

Objective To explore the effect of manidipine hydrochloride on kidney function in patients with hypertension. Methods One hundred and thirty -three hypertensive patients with renal dysfunction were randomly divided into treatment group ( n=73 ) and control group (n=60).Treatment group was treated with manidipine 10 mg? d-1,qd, and control group was treatment with amlodipine 5 mg? d-1 for 2 weeks. If the diastolic pressure≥90 mmHg after treatment, the manidipine in-creased to 20 mg? d-1 and amlodipine increased to 10 mg? d-1 .The trial lasts 13 weeks totally.The blood puressure, heart rate, blood creatinine and 24 h urinary protein of the two groups were observed. Results The blood pressure was significantly decreased in both groups (P<0.05).Heart rate was significantly reduced in treatment group ( P<0.05) , the average blood creatinine levels dropped to normal range, 24 h urinary protein didn′t decrease to normal, but significantly declined( P<0.05) , and the creatinine clearance rate had no significant difference.The creatinine and creatinine clearance rate were significantly difference compared with those before treatment in control group ( P<0.05) , the average of 24 h urinary protein excretion significantly increased compared with before treatment. Conclusion Manidipine hydrochloride presents a useful antihypertensive and renoprotective effect on mild -to -moderate essential hypertension with kidney dysfunction patients, with no heart inhibition.

Mycena subpiligera, a new taxon in sect. Fragilipedes that can strongly enhance the germination efficiency of Gastrodia elata seeds, was discovered in subtropical areas of China. As revealed by a morphological comparison with related Mycena species as well as maximum likelihood (ML) and Bayesian phylogenetic analyses based on sequences of the internal transcribed spacer (ITS) and the large subunit (LSU) regions of nuclear ribosomal RNA, the new taxon can be distinguished from phenotypically similar and phylogenetically related species. Optimal cultural conditions for M. subpiligera basidiomata are reported, and the germination rate of the new species is compared with that of M. citrinomarginata.

AIM AND METHODSTo observe the effects of Puerarin on K+ channel of isolated ventricular myocyte in guinea pig.

METHODSUsing inside-out configuration of patch-clamp single channel recording technique.

RESULTSPuerarin 20 micromol/L, 40 micromol/L, 80 microml/L could inhibit the open-close rate of K+ channel of isolated ventricular myocyte in guinea pig. At 80 micromol/L, Po was decreased from 0.867 +/- 0.13 to 0.019 +/- 0.01 (n = 5, P < 0.05).

CONCLUSIONPuerarin can inhibit K+ channel of isolated ventricular myocyte in guinea pig. It may be the mechanism of Puerarin against arrhythmias in molecular level.

Animals ; Guinea Pigs ; Heart Ventricles ; cytology ; Isoflavones ; pharmacology ; Myocytes, Cardiac ; drug effects ; physiology ; Patch-Clamp Techniques ; Potassium Channels ; drug effects ; physiology

Objective:To explore the clinical value of serum tumor markers ,which are carcino-embryonic antigen (CEA) ,car-bohydrate antigen 19-9 (CA19-9) ,carbohydrate antigen 72-4 (CA72-4) and cytokeratin 19 fragments (CYFRA21-1) ,in early diagnosis and treatment of laryngeal carcinoma .Methods :From January 2012 to June 2013 ,60 patients with laryngeal carcino-ma (case group) were selected ,and 60 corresponding participants in physical examination were also enrolled as healthy controls in this study .The serum contents of CEA ,CA19-9 ,CA72-4 and CYFRA21-1 were measured before and after operation in the two groups .The differences of sensitivity and specificity in detection of laryngeal carcinoma were compared between individual and combined detection of targeted indicators .Results:The serum levels of CEA ,CA19-9 ,CA72-4 and CYFRA21-1 were significantly higher in the study group than those in the control group (P<0 .01) .The serum levels of CEA ,CA19-9 ,CA72-4 and CYFRA21-1 of the study group were significantly higher in pre-operation than those in post-operation ,and the differ-ences were statistically significant (P<0 .01) ,among which CA19-9 showed the highest sensitivity (60 .00% ) ,while CA19-9 and CA72-4 showed the highest specificity (both were 100% ) .ROC curve analysis showed that the area under curve (AUC) of CA19-9 was 0 .987 ,which is significantly higher than those of CEA ,CA72-4 and CYFRA21-1 .The sensitivity of combined de-tection was significantly higher than individual test ,and the differences were statistically significant (P<0 .05) .Conclusions :Detection of serum CEA ,CA19-9 ,CA72-4 and CYFRA21-1 levels can be applied to early diagnosis of laryngeal carcinoma . Combined detection can significantly improve the sensitivity in diagnosis meanwhile maintain the superior specificity .

Objective To study the single nucleotide polymorphisms (SNP) characteristics of Yersinia pestis strains from different natural foci in China.Methods Genome-wide comparison was done to find SNP sites by the Mummer program among 9 Yersinia pestis genome which was downloaded from NCBI.Then 13 genic fragments including 19 SNP sites were amplified by PCR and sequenced in 133 Yersinia pestis strains,and the results were cluster analyzed with the BioNumerics software.Results Three thousand seven hundred and eighty sequence variation sites were found by genome-wide comparison.Using the different combinations of SNP sites,UPGMA cluster analysis revealed obvious geographic regional and eco-aggregation characteristics of Yersinia pestis strains isolated from China.Conclusions As relatively stable genetic markers,SNP can better reflect the genome characteristics of Yersinia pestis in different plague natural foci of China.