Objective To use the matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) technique for detecting the mutation gene of neonatal non-syndromic hereditary hearing impairment gene in Guangxi and to investigate its effectiveness and feasibility in clinical application.Methods A total of 7 100 newborns were performed the hearing preliminary screening and secondary screening by adopting AABR.The genomic DNA was extracted by the heel blood spot.Twenty mutation characteristics of 4 deaf predisposing genes were detected by MALDI-TOF-MS.Results The pass rate of hearing screening in 7 100 newborns was 97.11％ (6 895/7 100),the positive rate of neonatal gene mutation was 3.54％ (251/7 100),in which the GJB2 gene mutation was in 131 cases,the carrying rate was 1.84％,235delC heterozygous mutation was in 108 cases.SLC26A4 gene mutation was in 93 cases,which dominated by 1229C＞T heterozygous mutation and IVS7-2A＞G heterozygous mutation,mtDNA12SRNA gene mutation was in 16 cases and GJB3 gene mutation was in 11 cases.Conclusion Adopting the MALDI-TOF-MS screening technique can increase the detection rate of hot point mutation in common deaf related genes and discover neonatal genetic NSHI from molecular level and provides the corresponding geneticconsulting guidance for early finding and predicting deaf occurrence,and formulating the interventional measures.

Objective This study was performed to investigate the levels of HSP70 in tissue in pemphigus as a possible new theoretical basis for further elucidate the pathogenesis of pemphigus.Methods The expression of HSP70 in 62 patients with pemphigus was determined by immunohistochemistry,and the normal skin was taken as control.Results The results showed that the positive cells of HSP70＞75 ％ in the blisters of pemphigus vulgaris and the positive cells of HSP70＞50％ in the inflammatory cells near the blisters,and the expression of HSP70 was significantly higher than that in normal skin,which was statistically significant(Z=5.42,4.73,P＜0.01).Conclusion The abnormal expression of HSP70 in inflammatory cells and psoriasis of pemphigus patients showed that HSP70 is involved in the pemphigus.

Asian Continental Ancestry Group ; Bartter Syndrome ; genetics ; Child ; Chloride Channels ; genetics ; Humans ; Male ; Mutation

OBJECTIVETo explore the effect of early diagnosis of recurrence and early revision after resection of primary spine tumors.

METHODSFrom March 1989 to September 2005, the relate clinic data of 55 patients with giant cell tumors, osteoblastomas, chondrosarcomas and chordomas in spine in big piecemeal and current fashion was analysed.

RESULTSIn 55 cases, 43 patients were followed up and had complete materials. The follow-up time ranged from 1.6 to 16.5 years, averagely 5.8 years. Thirty-four patients followed up regularly, and 12 were found recurrent, in which one C(1) giant cell tumor was found extensively large 3 months after initial surgery and was undertaken palliatory curet. The other eleven lesions were small and re-operated with wide margin. As a result, six patients lived without tumors during the 1 approximately 9.5 years follow-up, one patient gave up revision when found recurred again for economic reason, another four patients recurred repeatedly, but they persisted in regular follow-up and took revision surgeries whenever the recurred lesion were found. As a result, 3 of them lived without tumor and the other one died of other disease without sign of recurrence. In contrast, there were another nine patients who came to follow up until they had symptoms and were confirmed recurrent extensively. Two of them were excised radically for the tumors located in the relatively easily exposed segments of spine and lived without tumor now. While the other seven patients only received palliatory curet and all died of tumors.

CONCLUSIONSRegular follow-up, early diagnosis of recurrence and early revision need to be regarded as part of radical excision and are very important of surgical treatment of spinal tumors, which can prolong the patients' survival time.

Adolescent ; Adult ; Aged ; Child ; Early Diagnosis ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; diagnosis ; surgery ; Reoperation ; Retrospective Studies ; Spinal Neoplasms ; diagnosis ; pathology ; surgery ; Treatment Outcome

OBJECTIVETo find the causes of the spinal primary tumors recurrence in surgical technique.

METHODSFrom 1989 to 2002, 38 cases of primary spine tumors, including giant cell tumor, osteoblastoma, chondrosarcoma and chordoma with wide resection via a piece-meal fashion. By adopting a retrospective method, the present study investigated the clinical and imaging materials of pre- and post-operation period and those in follow-up.

RESULTSThe study included 18 cases of giant cell tumor, 6 osteoblastoma, 6 chondrosarcoma and 8 chordoma. In all cases, 63% of tumors were in cervical and cervicothoracic (C(7)-T(2)) spine; 29% in thoracolumbar (T(4)-L(5)) spine and 8% in sacrum. Tumors involved in multi-segment were 34%. And 71% patients had the tumor in the body and the arch simultaneously. And 71% of tumors formed paraspinal masses, 42% in both sides. The tumors invaded the channel in 58% of the cases. The compartment were invaded in 79% patients. Finally, 32 patients were followed up, from 1.0 approximately 14.9 years, 5.1 years average. Seventeen patients recurred after the surgery, the recurrence rate was 53%. The recurrence rate of giant cell tumor was 35%, osteoblastoma 50%, chondrosarcoma 75%, chordoma 100%. The recurrence rate of tumor in cervical and cervicothoracic spine was 63%, thoracic-lumbar 33%, sacrum 67%. The recurrence rate of multi-segment tumors was 80%, and that of single segment 41%. The recurrence rate of the tumors involving in vertebral body alone or involving the arch simultaneously reached 75% and 55% respectively; the recurrent rate in the arch alone was 33%. The recurrence rate of the tumors involving in vertebral body ranged in different segments. Those growing in cervical and cervicothoracic spine reached 73%; those growing in thoracolumbar spine was only 25%. The recurrence of the tumors without soft masses was 20%, those of single-sided soft masses was 45% and those of double-sided 91%. Among the 17 recurrent patients, 83% of the tumors were in the cervical and cervicothoracic spine. Those extending to the upper cervical and cervicothoracic amounted to 58%. All the 17 recurrent patients had body lesion and paraspinal soft masses.

CONCLUSIONSDuring the primary spinal tumor operation, that failure to get adequate exposure and full division is thought to be the cause of recurrence. So the precise design before surgery and adequate exposure of the tumor in the surgery is the guarantee of wide excision.

Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; etiology ; Retrospective Studies ; Spinal Neoplasms ; pathology ; surgery ; Treatment Outcome

There are four different types of N-terminal amino acid sequences (F-I-0, F-I, F-II, F-III) in the multicomponents of earthworm fibrinolytic enzymes (EFE). In GenBank 21 nucleic acid sequences of EFE have been reported. Among them, most of the N-terminal amino acid sequences belong to the F-III type,few belong to the F-II type. Only one is similar to the F-I type, but none to F-I-0. In this research we hoped to obtain the gene encoding component F-I-0 of EFE by the bioinformatics tools. Based on the N-terminal amino acid sequence VVGGSDTTIGQYPHQL of the F-I-0 type from Lumbricus rubellus, a nucleic acid sequence was obtained by in silico cloning from dbEST of Lumbricidae using the software DNAMAN. A new gene of EFE from Eisenia foetida was successfully obtained by RT-PCR using specific primers designed according to this sequence. The new gene named EfP-0 was cloned in pMAL-c2x and expressed as the fusion protein MBP-EfP-0 in the supernatant of lysate. The fusion protein MBP-EfP-0 purified by affinity chromatography had hydrolytic activity on casein plate. Sequencing result shows, EfP-0 has 678bp and encodes a protein of 225 amino acids. The protein is a serine protease belonging to trypsin family. It has similar amino acid composition to F-I-0. BLAST in GenBank shows that the similarity is lower than 40% between EJP-0 gene and other EFE genes. By this we conclude that EfP-0 gene of EFE is a novel gene and it is the first time to be reported, its accession number for Genbank is DQ836917.
Amino Acid Sequence ; Animals ; Cloning, Molecular ; Computational Biology ; Databases, Genetic ; Endopeptidases ; biosynthesis ; chemistry ; genetics ; metabolism ; Escherichia coli ; genetics ; Expressed Sequence Tags ; metabolism ; Molecular Sequence Data ; Oligochaeta ; enzymology ; genetics ; Open Reading Frames ; genetics ; Reverse Transcriptase Polymerase Chain Reaction

Objectives:To investigate the clinical efficacy and influencing factors on clinical outcome of extracorporeal membrane oxygenation (ECMO) combined with percutaneous coronary intervention (PCI) on cardiac arrest patients due to acute myocardial infarction (AMI). Methods:The clinical data of 37 cardiac arrest patients post AMI who underwent ECMO combined with emergency PCI therapy strategies from January 2015 to January 2017 were retrospectively analyzed. The clinical data of the surviving group (17 cases) and the death group (20 cases) were compared and the outcome determinants were investigated. Results:37 patients were successfully treated with emergency PCI with the help of ECMO device, and the successful operation rate was 100%. The survival rate was 45.9% (17/37). There was no significant difference in gender, age and past history between the two groups (P＞0.05). The proportion of right coronary artery lesion was the highest (47.06%) in the surviving group, and the percent of the left anterior descending coronary artery lesion was the highest (60.00%) in the death group. Most patients (70.0%) in the death group had three vessel lesions and around half the patients (52.9%) in the surviving group had two-vessel lesions. The time of traditional cardiopulmonary resuscitation ([31.4±5.2] min vs [54.6±25.7] min),the time from cardiac arrest to ECMO ([47.5±19.5] h vs [93.6±60.5] h) were significantly shorter, while CCU time (16.0[8.7, 32.6] d vs 4.0[2.0, 12.0] d) was significantly longer in the surviving group compared to the death group (all P＜0.05). The mean arterial pressure at 24 h and 48 h after ECMO was significantly higher in the surviving group (89.6±21.9,87.9±19.4) than in the death group (71.8±19.3, 63.7±18.6) (both P＜0.05). Unconditional logistic regression analysis showed that left anterior descending artery lesion (OR=0.723, 95%CI:0.516~0.947), higher lesion vessel number (OR=1.638,95%CI:1.107~1.729), longer cardiopulmonary resuscitation time (OR=0.712, 95%CI:0.436~0.973), prolonged cardiac arrest to ECMO placement time (OR=0.698, 95%CI:0.411~0.859) were risk factors of death, and the higher MBP at 48 h after ECMO (OR=0.672,95%CI:0.326~0.693) was the protective factor of death (all P＜0.05) in this patient cohort. Conclusions:ECMO combined with emergency PCI is safe and can improve the success rate of rescue in patients with cardiac arrest after acute myocardial infarction.

The healing training was an important method to improve living ability and quality of life of patients with schizophrenia.This article introduced a living skill training scheme applied in out-patients whose course of disease shorter than 5 years.

BACKGROUNDLower cervical dislocation with locked facets is common in cervical injury. The locked facets include unilateral and bilateral types. Different successful closed reduction rates has been achieved between unilateral and bilateral types by using rapid skull traction, which was commonly used to reduce the cervical dislocation. It is important to investigate a suitable management specific to patients with different types of cervical locked facets.

METHODSA total of 38 patients with cervical dislocation with locked facet due to cervical injury treated by rapid skull traction and operation from 1988 to 2005 were reviewed. Rapid skull traction was used in all the patients. Successful closed reduction rate was 88.0% in patients with bilateral cervical locked facets and that was 15.4% in those with unilateral cervical locked facets. These data were then statistically compared by Chi-square test. Patients who were reduced successfully underwent anterior cervical discectomy and fusion at the injured level, and those who failed in closed reduction received posterior open reduction and fixation.

RESULTSIn this series, there was statistically significant difference (P < 0.05) in the rate of successful closed skull traction reduction between unilateral and bilateral locked facets dislocation. Unilateral cervical locked facets dislocation was not easily reduced by skull traction which was suitable for reduction of bilateral cervical locked facets dislocation. However, unilateral cervical locked facets dislocation can be reduced by posterior open reduction.

CONCLUSIONSUnilateral cervical locked facets dislocation should be treated immediately with posterior open reduction and instrumentation. Bilateral cervical locked facets dislocation can be reduced by rapid skull traction firstly and anterior cervical discectomy and interbody fusion later.

Adult ; Aged ; Cervical Vertebrae ; injuries ; Diskectomy ; Female ; Humans ; Joint Dislocations ; surgery ; Male ; Middle Aged ; Spinal Fusion ; Traction

Objective To explore the reliability and validity of the Children' s Impact of Event Scale (Chinese version, CRIES-13) and to determine the value and the optimal cutoff point of the score of CRIES-13 in screening posttraumatic stress disorder(PTSD), so as to provide evidence for PTSD prevention and identify children at risk in Wenchuan earthquake areas. Methods A total of 253 children experienced the Wenchuan earthquake were tested through Stratified random cluster sampling. The authors examined CRIES-13's internal consistency, discriminative validity and predictive value of the cut-off. PTSD was assessed with the DSM-Ⅳ criteria. Area under the curve while sensitivity, specificity and Youden index were computed based on the receiver operating characteristic curve analysis. Optimal cutoff point was determined by the maximum of Youden index. Results 20.9% of the subjects were found to have met the DSM-Ⅳ criteria for PTSD 7 months after the Wenchuan earthquake accident. The Cronbach' s coefficient of CRIES-13 was 0.903 and the mean inter-item correlation coefficients ranged from 0.283 to 0.689, the correlation coefficient of the three factors with the total scale scores ranged from 0.836 to 0.868 while the correlation coefficient among the three factors ranged from 0.568 to 0.718, PTSD cases indicated much higher scores than non-PTSD cases, the Youden index reached maximum value when the total score approached 18 in CRIES-13 with sensitivity and specificity as 81.1% and 76.5% respectively. Consistency check showed that there were no significant differences between the results of CRIES-13 score ≥32 and clinical diagnosis (Kappa=0.529) from the screening program. Conclusion CRIES-13 appeared to be a reliable and valid measure for assessing the posttraumatic stress symptoms among children after the earthquake accident in the Wenchuan area. The CRIES-13 seemed to be a useful self-rating diagnostic instrument for survivors with PTSD symptoms as a clinical concern by using a 18 cut-off in total score. Consistency check showed that there was no significant difference between the screening result of CRIES- 13 score ≥ 32 and clinical diagnosis.