Objective To investigate effect of genetic variants in angiogenin (ANG) on the susceptibility of familial amyotrophic lateral sclerosis (FALS) in Han Chinese.Methods Thirty-one FALS families from 2009 to 2012 were collected and ANG gene was screened in the probands using PCR and direct sequencing.Results All 31 ALS families were autosomal dominant inheritance.No mutations and single nucleotide polymorphism were detectable in ANG gene in the 31 probands.Conclusion Our study suggests that ANG gene variations may be rare in Chinese Han FALS.

Objective To study the features of ventilation function in patients with flail arm syndrome (FAS).Methods The clinical data of 351 patients with sporadic amyotrophic lateral sclcrosis (ALS) fron 2009 to 2013 were retrospectively reviewed.Among them,329 were classical ALS and 22 were FAS.The differences of forced vital capacity (FVC) between FAS and classical ALS were analyzed.Results The percent predicted FVC (FVC％pred) values were (88.0 ±9.5)％ in FAS and (84.3 ± 16.8)％ in classical ALS including 4 and 128 patients with abnormal FVC％ pred (＜80％) in FAS and classical ALS,respectively.The FVC％ pred levels were significantly higher in FAS subjects [(88.0 ± 9.5) ％] than in classical ALS subjects of bulb [(80.0 ± 14.8) ％] or those of upper limb [(80.8 ± 16.0) ％] onset with duration over 12 months (All P ＜ 0.05).The proportion of subjects with FVC％pred ＜ 80％ was statistically lower in FAS [18.2％ (4/22)] than in both classical ALS of upper limb onset [42.8％ (80/187);P=0.037] and classical ALS with duration over one year [48.5％ (48/99);P =0.009].Conclusions Impaired ventilation function occurs less and later in FAS than that in classical ALS of upper limb onset with duration over one year,suggesting later and less requirement for non-invasive positive pressure ventilation treatment for FAS patients.Differentiation of FAS subjects from ALS helps assess prognosis and make treatment plan for these patients.

Objective To identify the patterns of population distribution and the relationship of copper-zinc superoxide dismutase 1 (SOD1) mutations and clinical phenotypes in Chinese patients with familial amyotrophic lateral sclerosis (FALS).Methods The clinical data of 43 FALS families from 2008 to 2011 were collected,SOD1 gene mutations in the probands were screened with PCR and direct sequencing,and the correlations of genotype-phenotype were analyzed.Results All 43 FALS families were autosomal dominant inheritance.The male to female ratio for probands was 1∶0.6,and the average onset age was (48.1 ± 11.8) years.Upper limb onset accounted for 53.5％,lower limb onset 41.9％,and bulbar onset 4.6％.Nine mutation types including 8 missense mutations and 1 deletion mutation were detected in 10 probands.The detection rate of SOD1 mutations in this cohort was 23.3％.Conclusions The study reported the correlations of genotype-phenotype of SOD1 in a larger group of Chinese FALS patients.Two novel mutations were found including one deletion mutation.SOD1 mutations increased from 11 to 19 in Chinese FALS.For SOD1 patients,lower motor neuron signs usually predominated.Most clinical phenotypes of one mutation varied greatly in different families even in the same family.

A good funds budget can optimize efficiency of the research funds. Through the implementation of a National Science and Technology Major Project, the authors analysed the budget management proposed some skills and suggestions for the planning and management of budget.

Objective To study the clinical efficacy of axillary incision and thoracoscopic surgery for spontaneous pneumothorax.Methods 106 cases of spontaneous pneumothorax in our hospital were given axillary incision surgery(axillary incision group) and thoracoscopic surgery(thoracoscopy group).The intraoperative blood loss,operative time,chest tube drainage time,postoperative hospital stay and surgery costs were compared between the two groups,and the occurrence of complications were observed.Results The armpit small incision group,intraoperative blood loss was (44.5 ± 5.2) ml,the thoracoscopic amount of blood loss was (38.3 ± 6.5) ml (t =6.378,P ＜ 0.01) ;armpit operation time of the small incision group was (68.0 ± 5.3) min,thoracoscopic operative time was (60.8 ±6.0)min; armpit chest tube drainage time of small incision group was (2.8 ± 0.8)d,thoracoscopic group of chest tube drainage time was (2.0 ± 0.5) d; axillary small incision group,length of stay was (4.8 ± 0.7) d,the thoracoscopic group hospitalization time was (4.0 ± 0.6) d,(t =3.552,4.215,3.076,all P ＜ 0.05) ; axillary incision surgery costs was (1 550 ± 348) Yuan,the thoracoscopic group cost of surgery was (4 290 ± 573) Yuan (t =-24.823,P ＜ 0.05).Two groups of patients with no surgical complications,chest X-ray review of lung reexpansion good thoracoscopic group one cases of recurrence of pneumothorax,axillary incision group without recurrence (P ＞ 0.05).Conclusion Axillary small incision and thoracoscopic surgery for spontaneous pneumothorax have the similar efficacy,thoracoscopic surgery is less trauma,faster recovery,shorter hospital stay,but the high cost of surgery,if patients physical condition is acceptable,which can be used axillary incision surgery.

Objective To get more diagnostic informa ti on from the acute cerebral infarct, We used1HMRS and TCD to investigate the r elationship between the metabolites in the infarct, the infarct volume, blood f low velocity and blood flow to the infarct, and the clinical neurologic deficit. MethodsFifteen patients with acute cerebral infarct underwent1HMRS and TCD examinations. Clinical neurologic deficit score was c ollected from every patient record at the time of the1HMRS and TCD study. Inf arct volume (V/ml) was determined with machine software automatically. A PRESS a cquisition was used for1HMRS. The peak areas of N,Lac,Cr,Cho in the lesi on region were compared with those in the contralateral side. TCD was performed for measuring Vs, Vm of encephalic blood vessels on both sides, and the responsi ble cerebral blood flow was estimated by Vs. ResultsT here were significant decrease of N,Cr,Vm and ECBF in the lesion region when c ompared with the contralateral side( P

To investigate the expressions and changes of serum soluble intercellular adhesion molecule-1 (sICAM-1) in lung cancer patients before and after operation and the roles of sICAM-1 in differential diagnosis, metastatic potential, and prognosis. Methods From 2002 to 2003, a total of 17 samples of lung carcinoma tissues and sera were studied. The other 11 non-cancer patients were employed as the controls. Cell surface sICAM-1 levels were analyzed by immunohistochemistry method and ELISA. Results The serum sICAM-1 concentration in the cancer patients was (432.0?124.4) ng/ml. In the controls, however, the serum concentration of sICAM-1 was (262.3?77.7) ng/ml. In patients with lung cancer, the serum concentration of sICAM-1 was significantly higher than that of the controls (P0.05). Conclusion The serum sICAM-1 concentrations in lung cancer patients may play an important role in staging and may also serve as a useful indicator of advanced disease.

Aim To study the anti-inflammatory effect of Yinhuang micro-enema compound (YHMEC) in vitro and its possible anti-inflammatory mechanisms. Methods Peritoneal macrophages (PM?) obtained from Wistar rats were randomly divided into four groups: control group, lipopolysaccharide (LPS)-induced group, YHMEC intervention group and dexamethasone intervention group. The morphological changes of cells were observed under convert microscope. Peritoneal macrophage viability was test with MTT. The levels of tumor necrosis factor?(TNF-?) and interleukin-6 (IL-6) were measured using ELISA. The translocation of nuclear factor-kappa B (NF-?B) p65 was detected with immunocytochemical method. Results The levels of TNF-? and IL-6 were increased significantly when PM? were induced by LPS and p65 were translocated from the cell cytoplasm into the nucleus. TNF-?,IL-6 secretions and translocation of NF-?B induced by LPS were inhibited by YHMEC. Conclusion The anti-inflammatory effects of YHMEC may act at least partly through inhititing the translocation of NF-?B and thus depress the expressions of TNF-? and IL-6.

Objective To analyze the clinical features of 27 Chinese patients with Kennedy's disease(KD), a sex-linked inheritance disorder. Methods We collected the clinical data of 27 KD patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones and biochemical indicators. Results Patients with spinal and bulhar muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. Part of the invalids presented signs of androgen insensitivity such as gynecomastia or reduced sexual function, even though their degrees of sex hormones were normal. There was mild motor functional lesion which correlated with the course of the disease ( r = 0. 77, P = 0. 000). The degrees of creatine kinase ( ( 920. 10 ± 495.54 ) U/L ) and triglyceride ( ( 3.27 ± 2. 78) mmool/L) increased mildly and was significantly different from the levels of healthy ones (107.20 U/L,t =7.517,P =0.000;1.40 mmol/L, t =2.687,P =0.017). Conclusions Basically, Chinese KD patients present the same clinical features as the literature reports, however they have distinctive aspects such as elevated degree of triglyceride. The present research can help us to understand the features of Chinese KD more particularly.

Based on the analysis of definition and the causes of excessive medical treatment, this paper discus-ses the harm of excessive medical treatment concretely, including increased health care costs, the waste of medical resources, worsening doctor-patient conflicts that influence the development of holistic medicine. And in the per-spective of ethics, professional spirit and the humanistic quality, it puts forward the prevention and countermeasures to solve the problem of excessive medical treatment.