Due to a wide variety of classification and phenotypes,rare diseases are difficult to be diagnosed in the clinical practice Studies have shown that most rare diseases belong to inherited diseases,so it is particularly important to carry out the genetics research and molecular diagnosis.Next generation sequencing (NGS) technology has the advantages of a high throughput,high sensitivity etc,which is the main research means to identify the pathogenic genes of rare diseases at present.With the development of NGS and the bioinformatics technology,in recent years the whole exome sequencing and targeted panel sequencing have been gradually applied to clinical molecular diagnosis,which is important to increase the accuracy of diagnosis and to improve the therapeutic effect of rare diseases.

Obstructive sleep apnea-hypopnea syndrome ( OSAHS) is a prevalent disorder often associated with multisystem dys-function.Available therapies are limited by either lack of long-term adherence or low response rates .Two emerging therapies hold promise in providing alternatives to patients with OSA .The first stems from the importance of the upperairway dilator muscles in main-taining pharyngeal stability .Electrical stimulation of the genioglossus muscle improves both upper-airway diameter and ameliorates pha-ryngeal obstruction .The results of phase ⅠandⅡclinical trials hold promise , but the reported improvements in the apnea-hypopnea index vary between subjects and long-term safety needs further studies .The second technology relies on creating an increased expiratory nasal resistance via a bidirectional valve designed to be worn just inside the nostrils .Initial findings of clinical trials suggest reduction in severity of sleep apnea and subjective daytime sleepiness .Considerable heterogeneity in response to the nasal device was noted de-spite the high adherence rates .It remains unclear which patients will likely benefit from these devices .

OBJECTIVE:To investigate the use of antibiotics in our hospital.METHODS:The data regarding the use of antibiotics retrieved in July 2006 from 184 discharged histories were analyzed retrospectively.RESULTS:The application rate of antibiotics in our hospital reached 77.3%,of which,34.6% were used in combination of two kinds,and 32.6% were used in combination of three kinds.Only 5.9% of the specimens had been sent for pathologic examination.CONCLUSION:The application rate of antibiotics in the inpatients of our hospital as well as the postoperative use of antibiotics were all on the high side,while the rate of specimens sent for pathologic examination was on the low side,therefore,it is urgent to strengthen control on the rational use and standardized management of antibiotics.

A total of 115 patients with acute chest pain under the suspicion of acute myocardial infarction (AMI) were selected.By the onset time of chest pain,they were divided into two periods of ＜3 h and 3 -6 h respectively. Heart-type fatty acid binding protein (H-FABP)and such traditional cardiac biochemical markers as cardiac troponin T (cTnT),creatine kinase isoenzyme (CK-MB) and myoglobin (MYO) were tested to compare the sensitivity and specificity in the early diagnosis of AMI.The sensitivity of H-FABP was significantly higher than those of cTnT,CK-MB and MYO (P =0.026,0.005,0.048 ) ; the specificity of H-FABP was lower than those of cTnT,CK-MB in the diagnosis of AMI ( P ＞ 0.05 ).The sensitivities of H-FABP were 81.6％ and 78.1％ in the ST-elevation myocardial infarction (STEMI) and nonST elevation myocardial infarction (NSTEMI) groups respectively ( P =0.095 ).Regardless of the onset of chest pain at ＜ 3 h or 3 -6 h,the combination of H-FABP and cTnT had a higher sensitivity than those of cTnT,CK-MB and MYO in the early diagnosis of AMI (P =0.005,0.028).In the early and rapid diagnosis of AMI patients,H-FABP has a high sensitivity and a poor specificity.And it has some reference value.

Objective To explore quality of life (QOL) of spouses of spinal cord injury patients,as well as its influencing factors.Methods Sixty-eight spouses of spinal cord injury patients were recruited as an observation group.At the same time,another 70 healthy married people who had no serious chronic diseases in the family but were matched in gender,age,occupation and education were chosen as a control group.The QOL of all the subjects in both groups was investigated by way of a questionnaire survey.The results of both groups were compared and factors that influenced their QOL were explored.Results The QOL of spouses of spinal cord injury patients,including total QOL ( 3.22 ± 0.37 ),physiological function ( 60.57 ± 14.22 ),psychological state ( 60.09 ± 8.06 ),social relations (63.37 ± 8.10 ) and the living environment (66.86 ± 11.26 ) were significantly lower than in the control group (4.62 ± 0.75 ; 82.48 ± 10.92 ; 86.02 ± 8.75 ; 85.94 ± 10.13 and 83.23 ± 9.54,respectively).The QOL of spouses of spinal cord injury patients was closely related to the patient's injury type,injury position,the treatment protocol,as well as their own gender,vocation and education.Conclusion The QOL of spouses of spinal cord injury patients is significantly lower than that of normal people,and closely related with the patients' injury type,injury position and treatment,as well as their own gender,vocation and education.

Recently,commercialized infant body plethysmography has been widely used in clinic and re-search,especially with the publication of recommendation for this equipment and methodology. As the most valu-able equipment in measuring airway resistance and lung volume,infant body plethysmography can show series of valuable data on lung function,which is important in assessing pulmonary growth and development,evaluating respiratory mechanics and helping diagnose disease. However,the application of infant body plethysmography in clinic and physiology measurements is still limited by the effectivity of this equipment and appropriate reference values. This review is to introduce body plethysmography in infants,describe frequently-used data of lung func-tion,and discuss its potential clinical significance and availability of reference values.

Objective To investigate effect of coagulation, fibrinolysis, platelet and tumor markers in patients with advanced lung cancer by chemotherapy.Methods 21 cases of advanced lung cancer patients were selected to be the experiment group, and 20 healthy people were selected to be the control group.The experiment group were treated by chemotherapy,coagulation, fibrinolysis, platelet and tumor markers were compared before and after the treatment.ResuIts Compared with experiment group before chemotherapy, PT, APTT, TT levels of the patients after chemotherapy were lower, serum FIB concentrations were higher (P<0.05); PC and FPS were lower , D-D, PAI-1 concentration level were higher (P<0.05); PLT, MPV, PDW levels were lower (P<0.05); CEA, CYFRA21-1, NSE, CA125 levels were lower (P<0.05).ConcIusion Chemotherapy can enhance the effect of coagulation system in patients with advanced lung cancer, inhibit the fibrinolytic system and reduce the level of tumor markers.

AIM and METHOD To investigate the antibacterial activity (ED 50 value) of cefoperazonesodium and tazobactam sodium (4∶0 5) in vivo using minor modified Karbers method,which will offer some important evidences for clinical trial and therapy RESULTS The ED 50 value of cefoperazone sodium and tazobactam sodium(4∶0 5) and Cefoperazone sodium and sulbactam sodium (1∶1) in vivo protested against zymogenic staphylococcus aureus and Escherichia coli in mice infected by these bacteria were 92 0 mg?kg -1 and 3 4 mg?kg -1 ,164 0 mg?kg -1 and 6 9 mg?kg -1 ,respectively,and 256 5 mg?kg -1 and 38 9 mg?kg -1 in single composed compound of cefoperazone sodium,cefoperazone sodium and tazobactam sodium (4∶0 5) in vivo had more potent antibacterial activity compared with cefoperazone sodium and sulbactam sodium (1∶1) and single composed compound of cefoperazone sodium. The ED 50 value of cefoperazone sodium and tazobactam sodium (4∶0 5) protested against pseudomonas aeruginosa in mice infected was lower than that of Cefoperazone sodium and sulbactam sodium and single composed compound of cefoperazone sodium CONCLUSION Cefoperazone sodium and tazobactam sodium made in China has an markedly therapeutic effect on antibacterial activity protected against zymogenic staphylococcus aureus and Escherichia coli and pseudomonas aeruginosa in mice infected by these bacteria

OBJECTIVETo explore the curative effect and adverse reactions of a convenient expiratory positive airway pressure device(EPAPD) in treatment of obstructive sleep apnea/hypopnea syndrome(OSAHS). METHODS74 subjects with OSAHS were treated by EPAPD. Polysomnography(PSG) and Epworth sleepiness scores(ESS) were performed and evaluated before, within 1 week and after 3 months using the EPAPD. The index of PSG and ESS were compared at different time. The adverse reactions were also observed at the same time.RESULTS Compared to baseline, the AHI, LSaO2, ESS were significantly improved both within 1 week and after 3 months(AHI:F=73.62,P=0.00; LSaO2:F=12.65,P=0.00; ESS:F=61.49,P=0.00). The improvement of AHI between different OSAHS groups(divided by the severity of AHI in baseline) was significantly different(within 1 week:F=15.39,P=0.00; after 3 months:F=12.60,P=0.00). There was also significant difference between different hypoxia groups which were divided by the severity of LSaO2 in baseline(within 1 week:F=3.80,P=0.03; after 3 months:F=3.27,P=0.04). Meanwhile, the ESS was significantly improved in different sleepiness groups(divided by the ESS score in baseline) within 1 week(F=6.17,P=0.00). The device-related adverse events were reported by 44.59%(33/74). There were not serious adverse reaction happened. The major adverse reactions were throat and nose dry, nasal obstruction, and nose discomfort.CONCLUSION The EPAPD is an effective, convenient device in treating OSAHS. Meanwhile, the device related adverse reactions are slight. It may be more efficient for serious OSAHS patients than mild ones.

OBJECTIVE:To establish an UV-spectrophotometry method for determination of glutaraldehyde in solution METHODS:The concentration of glutaraldehyde in solution was measured at 233nm wavelength which was characteristic absorption peak of glutaraldehyde RESULTS:The calibration curve was linear within the range of 100～1 600?g/ml with r=0 9 998(n=5) The relative standard deviation of the measured results was≤2 13%(n=6) CONCLUSION:The method is simple,rapid and accurate