Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C?>?T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identiifed. Conclusions The diagnosis of chronic granulomatous disease is conifrmed in this child. It is caused by CYBA gene mutation.

Objective China is experiencing increasing disease burden and economic burden of acute myocardial infarction(AMI),while the healthcare resources are limited and unevenly distributed.Hospitalization duration is an important measure of health resource utilization index.This study aims to describe the time trend of Length of stay(LOS) for AMI inpatient care in eastern urban areas of China,and to identify potential hospital-level factors associated with the LOS,which is an important indicator of resource utilization.Methods The study randomly selected a representative sample of patients admitted for AMI in 2001,2006 and 2011,from urban hospitals in eastern China.After central data abstraction from medical records,patients' characteristics,treatments and outcomes were compared between 3 hospital groups that were divided according to their median of LOS.Results Five thousand and forty-seven AMI cases were included in the analyses.The average LOS were (15.3±10.2),(13.5±8.7) and (12.2±7.8) d in 2001,2006 and 2011 respectively,with a decreasing trend(F=10.93,P<0.001).After adjusted for patients' characteristics,there were no significant different in LOS between years.Patients' characteristics were similar between high-,middle-and low-LOS hospitals,however,in high-LOS hospitals,use rates of aspirin,clopidogrel and statins were even lower(P≤0.001).LOS were longer 1.9 d in the hospitals with relatively small AMI inpatient treatment volumes(30-80 annually,t=2.97,P<0.01).Conclusions The average LOS for AMI in eastern urban areas of China is much longer than in western countries.Conclusion between hospitals have highlighted the gaps in care quality and efficiency.Standardized clinical pathways and hierarchical medical system are essential strategies in the new healthcare reform.

Objective · To investigate antiemetic effect of aprepitant for moderately chemotherapy-induced nausea and vomiting in patients with gastrointestinal cancer. Methods · From 2014 July to 2015 August, 130 cases of gastrointestinal cancer patients were collected in Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, who received moderate emetogenic risk of chemotherapy for at least four courses. One hundred and nine patients were treated with aprepitant, palonosetron and dexamethasone on day 1, and aprepitant and dexamethasone on day 2 and 3. Twenty-one patients only received aprepitant and dexamethasone on day 1 and dexamethasone on day 2 and 3 in the first course of chemotherapy. During subsequent courses of chemotherapy they received aprepitant and treated in the same way as 109 patients. MASCC antiemetic tool (MAT) was used to evaluate the intensity of nausea. The primary endpoint was complete response (CR, no emesis and use of no rescue antiemetics) during the overall study phase (0-120 h after chemotherapy) at the second course. The secondary endpoint was complete protection (CP, CR plus no significant nausea) during the overall, acute (0-24 h), and delayed (24-120 h) phases at the second course. Results · The CR rates were 90.0%, 94.6% and 90.8% of patients in the overall, acute and delayed phases, respectively. The corresponding CP rates were 83.8%, 87.8% and 84.6 %, respectively. The CR rate increased from 42.9% to 57.1% during acute phase and increased from 9.5% to 90.5% during delayed phase for 21 patients after treatment with aprepitant. The main adverse reactions include constipation, anorexia and hiccups. Conclusion · Aprepitant combined with palonosetron and dexamethasone can effectively prevent moderately chemotherapy-induced nausea and vomiting in patients with gastrointestinal cancer. Aprepitant therapy can effectively maintain antiemetic effect in patients with many chemotherapy courses.

Objective To establish an animal model of sacral nerve root avulsion in rats and e-valuate its efficiency. Methods A total of 20 adult SD rats (either sex) were chosen at random to es-tablish the sacral nerve root avulsion model by avulsing the fight L4-6 nerve roots out of intervertebral fo-ramina without laminectomy. The left side was set as control group. The models were evaluated in aspects of survival rate, Basso-Beattie-Bresnahan (BBB) scores, somatosensory evoked potential (SEP), horse radish peroxidase (HRP) tracing, bilateral weight and cross section area (CSA) of muscle biceps femo-ris, fiber of triceps surae and anterior tibial muscle. Results Of all, 19 rats were survived but one died, with survival rate of 95.0%. The BBB score was (10.78+3.15) points in experimental group and 21 points in control group. The success rate of establishing animal model was 89.5% ,for there detected no SEP in bilateral cerebral cortex of the wounded extremity of 17 rats. HRP showed positive reaction in the spinal segment of L4-6 in two rats but negative in 17, with success rate of 89.5%. There was statistical difference in aspects of weight and muscle fiber CSA of double biceps femoris, triceps surae and anterior fibial muscle between experimental group and control group. Electron microscope found denervation chan-ges including muscle fiber atrophy, nucleus shifting to (center and muscle satellite cell. Conclusion A-vulsion of L4-6 sacral nerve root out of vertebral canal is a feasible and ideal method to establish the avui-sion model of sacral nerve root injury in rats.

Traditional Chinese medicine (TCM) has definitely clinical effect in treating hyperlipidemia, but the action mechanism still need to be explored. Based on consulting Chinese Pharmacopoeia (2010), all the lipid-lowering Chinese patent medicines were analyzed by associated rules data mining method to explore high frequency herb pairs. The top three couplet medicines with high support degree were Puerariae Lobatae Radix-Crataegi Fructus, Salviae Miltiorrhizae Radix et Rhizoma-Crataegi Fructus, and Polygoni Multiflori Radix-Crataegi Fructus. The 20 main ingredients were selected from the herb pairs and docked with 3 key hyperlipidemia targets, namely 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMG-CoA reductase), peroxisome proliferator activated receptor-α (PPAR-α ) and niemann-pick C1 like 1 (NPC1L1) to further discuss the molecular mechanism of the high frequency herb pairs, by using the docking program, LibDock. To construct evaluation rules for the ingredients of herb pairs, the root-mean-square deviation (RMSD) value between computed and initial complexes was first calculated to validate the fitness of LibDock models. Then, the key residues were also confirmed by analyzing the interactions of those 3 proteins and corresponding marketed drugs. The docking results showed that hyperin, puerarin, salvianolic acid A and polydatin can interact with two targets, and the other five compounds may be potent for at least one of the three targets. In this study, the multi-target effect of high frequency herb pairs for lipid-lowering was discussed on the molecular level, which can help further researching new multi-target anti-hyperlipidemia drug.
Asteraceae ; chemistry ; Drugs, Chinese Herbal ; chemistry ; metabolism ; Humans ; Hydroxymethylglutaryl CoA Reductases ; chemistry ; genetics ; metabolism ; Hyperlipidemias ; drug therapy ; enzymology ; genetics ; metabolism ; Hypolipidemic Agents ; chemistry ; metabolism ; Membrane Proteins ; chemistry ; genetics ; metabolism ; Molecular Docking Simulation ; PPAR alpha ; chemistry ; genetics ; metabolism ; Protein Binding ; Pueraria ; chemistry

ObjectiveTo investigate the feasibility of Legacy pedicle screw system plus minimally invasive technique in treatment of Tile type C pelvic fracture and evaluate its therapeutic effects.MethodsFrom January 2008 to March 2010, 12 patients with closed Tile type C pelvic fractures were treated with Legacy pedicle screw system plus minimally invasive technique.There were seven males and five females, at age range of 21-60 years (average 39.6 years).All patients had sacrum fractures of the posterior pelvic rings.The anterior pelvic ring fractures included unilateral ischiadic ramus fractures in four patients and bilateral ischiadic ramus fractures in eight.Three patients were combined with shock.The anterior pelvic rings were fixed with minimally invasive reconstruction plates and the posterior pelvic rings fixed with minimally invasive technique plus Legacy pedicle screw system.ResultsThe operation lasted for average 90 minutes (range, 80-110 minutes) , with average intraoperative blood loss of 105 ml (range, 80-150 ml).All patients were followed up for average 18 months (range, 6-32 months), which showed that all patients got satisfactory reductions and that the fractures were healed at one stage, with average period of 11.5 weeks (range, 9-13 weeks).There occurred no infections, failures of internal fixations or nerve injuries.According to improved Lindahl standard of pelvic injury function assessment, the result was excellent in 10 patients and good in two, with average score of 78.6 points.Conclusions Under master of the surgical indications, Legacy pedicle screw system plus minimally invasive technique takes advantages of minor trauma, less intraoperative fluoroscopy, short operation time, good curative resuhs and few complications in treatment of Tile type C pelvic fractures by fixation of the posterior pelvic rings and reconstruction of the anterior pelvic rings.

This study was aimed to observe effect of pomegranate leaf tannin and ellagic acid on primary rat adipocyte differentiation and lipid metabolism-related factor expression. Primary rat preadipocyte was in vitro cultured to observe the effect of pomegranate leaf tannin and ellagic acid on lipid fat cells as well as mRNA expression of its related factor. The results showed that pomegranate leaf tannin and ellagic acid had obvious inhibition effect on fat formation in fat cells. It had certain inhibition effect on activities of lipoprotein lipase (LPL) and glucose-3-phosphate dehydrogenase (GPDH). It promoted fat decomposition and reduced intracellular lipid content. It upregulated PPARγ and fatty acid-binding protein (aP2). It downregulated obese (ob) gene level. It was concluded that pomegranate leaf tannin can inhibit fat generation of fat cells and promote fat metabolism. Ellagic acid was its main active ingredient, which had the same effect as pomegranate leaf tannin.

Objective To explore the risk factors of Schistosoma japonicum infection in the residents in Xingzi County,Ji?angxi Province. Methods Six administrative villages from different areas were randomly selected by the cluster sampling meth?od as the study sites in Xingzi Country in 2013,and all the residents aged 5 years or above were investigated epidemiologically, and the schistosome infection was surveyed by Kato?Katz technique. The risk factors of schistosomiasis were analyzed by using the Chi?square test analysis and multivariate Logistic regression model. Results In 2013,there were 2 050 residents received the stool examination and 146 persons were positive,the schistosome infection rate was 7.1%. The Chi?square test showed that gender,age,occupation and education level were associated with the population infection rate(χ2=26.485、16.836、25.700、90.805,all P<0.05). The multivariate Logistic regression mode showed that the probability of schistosomiasis for the male was 3.041 times as much as that for the female;the probability of schistosomiasis for the illiteracy and primary education level crowd was 8.870 times as much as that for the college degree or above crowed;the probability of schistosomiasis for the junior middle school education level crowd was 5.598 times as much as that for the college degree or above crowed;the probability of schistoso?miasis for the high school education level crowd was 2.995 times as much as that for the college degree or above crowed;the probability of infection of fishermen was the highest,which was 3.053 times as much as that for the other professional crowds. Conclusions The risk factors of schistosome infection mainly include gender,occupation and the education level. We should strengthen the health education of schistosomiasis control,protection against the infested water contact,and so on.

Objective To evaluate the efficiency of normal sacral nerve root transposition in repair of the sacral plexus root avulsion. Methods A total of 30 adult SD rats were chosen and divided into three groups,ie,group A(the sciatic nerve received no repair),group B(the autologous sacral plexus root nerve was bridged with the right L6 nerve root by the translocation of the left L6)and group C (the right L5 nerve root nerve was bridged by the translocation of the left L6),10 rats per group.The left side of the rats was used as the control side and the right one as the experimental side.Twelve weeks after operation,the rats in each group were selected for the histomorphological observation of the nerves under the microscope and the electron microscope.The models were evaluated by observing the survival rates of the rats,BBB scores,electron microscope weight and muscle fiber CSA(cross section area)of double biceps femoris,triceps surae and tibial muscle. Results Twelve weeks after operation,the BBB scores in groups B and C was higher than that in group A,with statistical difference(P<0.01)between three groups.A remarkable improvement was found in the ratio of weight and muscle fiber CSA of double biceps femoris,triceps surse and tibial muscle.The repair efficiency in the group C was better than that in the group B.In the group B,the biceps femoris,triceps surae and tibial muscle recovered at different degrees.The biceps femoris recovered the best,when a great deal of myelinated nerve fiber regeneration was observed under the microscope and the electromicroscope.Electromyography revealed the volatility in the muscles of three groups,with larger peak value for the proximal biceps femoris and the triceps muscle but smaller peak value for the distal anterior tibial muscle. Conclusions L6 transposition combined with auto-graft of nerve root or without the auto-graft can reconstruct the partial function of the sciatic nerve in the paraplegia rats,when the latter has the better effect.

Objective To retrospectively review the PET/CT imaging features of sarcoidosis and improve the diagnostic accuracy of this benign disease.Methods The PET/CT imaging characteristics and clinical data, including lesion size, distribution, standardized uptake value (SUV) and the ratio of misdiagnosis, of 11 sarcoidosis patients (5 confirmed pathologically and 6 clinically) were retrospectively analyzed.Results (1) Eleven patients had lymph node involvement:mediastinum and hilar lymphadenopathy in 11/11, supraclavicular fossa lymphadenopathy in 8/11, retroperitoneal lymphadenopathy in 8/11, pelvic cavity lymphadenopathy in 3/11.(2) Extrathoracic lesions were found in 7/11 with 4 lung involvement, 2 liver involvement, 1 parotid gland and temporalis involvement and 1 bilateral iliac and sacral bone involvement.(3) The size of the lesions ranged from 1.0 to 4.6 cm and the CT density ranged from 30 to 40 HU.The lesions in the lung are hypodense and in the liver are slightly hypo-or iso-dense.18F-fluorodeoxyglucose (FDG) uptake of all lesions was definitely increased in 6 cases; 18F-FDG uptake of some lesions was moderately or definitely increased in 2 cases, and slightly increased uptake in 3 cases.(4) The PET/CT diagnosis was consistent with the final diagnosis in 6/11.The 5 cases of misdiagnosis were malignant lymphoma (4/11) and lung cancer ( 1/11 ).Conclusions Differentiation between sarcoidosis and lymphoma in patients presenting with hilar lynphadenopathy can be difficult.Whole-body PET/CT may be helpful in the differentiation of the two diseases.