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.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Humans ; Imaging, Three-Dimensional ; Male ; Maxillary Artery ; diagnostic imaging ; Middle Aged ; Pterygopalatine Fossa ; diagnostic imaging ; Tomography, Spiral Computed ; Young Adult

Objective To investigate the expression and early diagnosis value of CD64 index levels in peripheral blood cells in patients with postoperative traumatic sepsis.Methods A number of 420 trauma patients were enrolled in the study,and they were divided into the postoperative traumatic sepsis group(130 cases)and postoperative general trauma group(290 cases)according to the clinical manifestations. The CD64 levels in peripheral blood were measured by flow cytometry,and the levels of C-reactive protein(CRP)and white blood cell count (WBC)were detected.The diagnostic value of these indexes on postoperative traumatic sepsis were evaluated.Results The CD64 index, CRP and WBC levels in postoperative traumatic sepsis group were significantly higher than postoperative general trauma group(P <0.05). After appropriate treatment,the CD64 index,CRP and WBC levels decreased significantly compared with the preoperative levels(P <0.05). The correlation analysis showed that the CD64 index in peripheral blood and CRP level were positively correlated(r =0.79,P <0.01).How-ever,the CD64 index in peripheral blood and WBC level were of no significant correlation(r =0.028,P >0.05).The ROC curve analysis showed that when CD64 index(7.21)considered as the boundary for early diagnosis of postoperative traumatic sepsis,the sensitivity and spe-cificity of diagnosis for postoperative traumatic sepsis were 85.1% and 87.8%,the area under the ROC curve(AUC)was 0.865(95%CI 0.784 ~0.929),which was significantly better than CRP index.Conclusion The expression of CD64 is higher in patients with postoperative traumatic sepsis,which can be used as an effective indicator for early diagnosis of postoperative traumatic sepsis,and it has an important clin-ical application value.

With the continuous development of bone tissue engineering, a variety of emerging bone graft materials provided various methods for repairing bone defects. Early and rapid accomplishment of revascularization of materials interior after implantation of bone transplantation materials is a difficulty faced to bone tissue engineering. Blood vessels ingrowth provides the requisite netritional support for the regeneration reconstruction of bone tissue, for this reason, vascularization plays a significant role in bone tissue engineering. However,there is not a golden standard strategy of vascularization at present. Scaffold materials, cells and growth factors still are three indispensable elements in tissue engineering, and are cardinal points of the promoting vascularization strategies. Multiple growth factors or multiple cells combined with scaffolds, which are hot spots, have obtained excellent vascularization. This review focused on the comprehensive strategies for promoting the successful vascularization of tissue engineered scaffolds.
Bone and Bones ; blood supply ; Humans ; Neovascularization, Physiologic ; Tissue Engineering ; methods ; Tissue Scaffolds

Objective To investigate the expression of Ki-67,Survivin,Livin in dysplasia,colon carcinogenesis and para-carcinoma tissues,and to discuss the variation of cell proliferous capability in colon carcinogenesis and antiapoptosis factors.Methods 219 specimens were composed of mild,moderate and severe atypical hyperplasia,well,moderately,poorly differentiated adenocarcinoma,para-carcinoma tissues of 36,34,18,35,27,35 and 34 cases.Detected the expression of Ki-67,Survivin and Livin with tissue microarray and immunohistochemical methods.All data were statistically analyzed by SPSS 17.0.Results In mild,moderate and severe atypical hyperplasia,well,moderately,poorly differentiated adenocarcinoma and para-carcinoma tissues the expression of Ki-67 were (21.56 ± 19.20)％,(37.44 ± 17.41)％,(36.17 ± 17.41)％,(55.29 ± 16.13)％,(44.89 ± 29.67)％,(45.11 ± 29.24)％,(43.94 ± 28.84)％,Survivin were 13.8 ％,44.1％,77.8 ％,85.7 ％,85.1％,91.4 ％,91.1％,and Livin were 2.7 ％,38.2 ％,55.6 ％,100.0 ％,77.8 ％,80.8 ％,79.4 ％.The differences of Ki-67,Survivin and Livin expression in each group were statistically significant (F =6.796,X2 =81.754,X2 =95.200,all P ＜ 0.05).Ki-67 was significantly correlated with expression of Livin (r =0.360,P ＜ 0.05) and no correlated with expression of Survivin (r =0.044,P ＞ 0.05).Conclusion Colonic epithelium from mild atypical hyperplasia to proliferation of well-differentiated adenocarcinoma cells formed a peak,and gradually down to poorly differentiated adenocarcinoma formed a platform.When the colon epithelial cells to become cancerous,the capability of cell proliferation will significantly enhance,apoptosis inhibition will reach the peak and the tumor cell will happen the changes of malignant biological behavior.Tumor microenvironment may promote the cell proliferation in para-carcinoma tissues and the development of colon cancer.Livin may inhibit apoptosis and promot the progression in synergistic mechanism importing with Survivin,which play a role in the development of colonic adenocarcinoma.

Objective To study the clinical characters,the mode of inheritance of osteogenesis Imperfecta in a Chinese Family and effect of bisphosphonate on Osteogenesis Imperfecta.Methods Clinical data of proband and their family members were collected.The family patterns were mapped.clinical features were summarized and analyzed.Results(1)Clinical features:There are sixty members of four generations in the family.20 cases including proband's mother and cousin were diagnosed as having OI type Ⅰ based on clinical manifestations.15 cases of blue sclera,16 cases of dentinogenesis imperfecta,5 cases of hearing loss and 3 cases of fracture.Thyroid cancer and Turner's syndrome was found in Proband's mother and cousin respectively.(2)The genetic map showed that the disease was autosomal dominant inheritance.(3)Treatment:The proband,her mother and her cousin were treated with alendronate for two years.Bone pain relieved and bone mineral density increased significantly,and no fracture occurred so far.Conclusion(1)This OI family was diagnosed as having OI type Ⅰ.The mode of inheritance is autosomal dominant inheritance.(2)Bisphosphonates may be an effective drug for treatment of OI.

Objective To analyze the images from the segmenting CT in the space of nasal endoscope and to observe the benefits in applying the method in endoscopic sinus surgery. Methods Five patients with inverted papilloma and ten patients with chronic rhinosinusitis were enrolled. The images from the coronal CT were put in the ideal model of the nasal cavity, which had been designed by SketchUp software package, and the space of the model in the 0° rod-lens telescope was simulated and observed according to definite elevation angle between the endoscope and bottom of nasal cavity and the distance of the endoscope entering the nasal cavity. The surgical plan was designed and compared with the models of the intraoperative corresponding vision. Results The anatomical form of the images from the coronal CT and the directions of the space in the visual field of the endoscope were correlative with the elevation angle between the endoscope and bottom of nasal cavity and the distance of the endoscope entering the nasal cavity. Based on the elevation angle and the entering distance of the endoscope, the images from the CT scan in the space of nasal endoscope were analysed according to the order, which were consistent with the findings in the intraoperative corresponding vision, providing the accurate directions of the space for the endoscopic sinus surgery. Conclusions The changes of the images of the CT scan in the space of the endoscope were consistent with the perspective law. To know the perspective law could grasp the directions of the space in the visual field of the endoscope and ensure the safety of the endoscopic surgery. The method was simple and feasible. The benefits of this technique were confirmed by clinician.

OBJECTIVE To explore the potential effect and mechanisms of protopanaxadiol deriva-tive 1-(3,4-dimethoxyphenethyl)-3-(3-dehydroxyl-20(s)-protopa- naxadiol-3b-yl)-urea (DDPU) in the treatment of Alzheimer disease.METHODS ELISA assay was performed in both HEK293-APPswe and CHO-APP cells to demonstrate the efficacy of DDPU in reducing Ab level.SH-SY5Y,primary neurons and astrocyte cellswereused to study the regulation of DDPU against the signaling pathways involved in Aβ/ER-stress pathology. APP/PS1 transgenic mice wereusedto study the regulation of DDPU against ADL and cognitive deficits. APP/PS1 transgenic mice were randomly placed into three groups (n=10):The two 6-month transgenic groups were administrated with 30 mg·kg-1DDPU or vehicle and the 6-month non-transgenic group was administrated with vehicle for 100 days by intraperitonealinjec-tion.After 100-day administration,nest construction assay and Morris water maze(MWM)assay were applied to evaluate the daily living activities and cognitive abilities of the mice with continuous DDPU treatment. Upon completion of behavior assays, mice were euthanized, and the brains were removed and bisected in mid-sagittal plane.The right hemispheres were frozen and stored at-80°C,and the left hemispheres were fixed in 4% paraformaldehyde. RESULTS DDPU effectively improved learning and memory impairments in APP/PS1 transgenic mice, and the underlying mechanisms have been inten-sively investigated. DDPU reduced Ab production by inhibiting the PERK/eIF2a signaling-mediated BACE1 translation, while promoted Ab clearance as a PI3K inhibitor thus negatively regulating PI3K/AKT/mTOR signaling in promotion of autophagy.Moreover,DDPU also exhibited neuroprotective effect by attenuating ER stress. Therefore, all findings have clearly demonstrated the crosstalk between Ab and ER stress, and confirmed that targeting ER stress should be a potential target for innovative anti-AD drug development,while highlighted the potential of DDPU in the treatment of AD.

Objective To investigate the neuroimaging features in mitochondrial encephalomyopatbies with lactic acidosis and stroke-like episodes(MELAS).Methods Twenty-two clinically diagnosed patients who came from department of neurology,Huashan hospital in October 2003 to July 2006 were analyzed for CT,MRI,MRI contrast,MRA and MRS.Results In all 22 patients,the neuroimaging results of 21 were positive.There were 9 patients lying in hemisphere,12 in both cerebral hemispheres,including occipital,parietal,temporal and frontal lobe.The abnormal areas showed low signal intensity on T_1-weighted MRI,high signal intensity on T_2-weighted MRI and fluid attenuated inversion recovery(FLAIR)images.The lesions of 12/16 patients on MR contrasted images were enhanced.The lesions of one patient showed malacoma-like changes,one showed Fahr syndrome' s change and another showed high signal intensity on MR contrasted images.Conclusion Although the neuroimaging features of MELAS are complicated,the specific ones could help to make the diagnosis.

Objective To clarify the role of insulin resistance on spontaneous recanalization of infarct-relat-ed arteries in the early phase of acute ST-elevation myocardial infarction (STEMI) in patients with normal glucose tolerance. Methods 141 consecutive patients with normal glucose tolerance and acute STEMI were enrolled in our study. Subjects were divided into TIMI 0-1 group (n =91 ) and TIMI 2-3 group (n =50) by primary coronary angi-ngraphy (CAG). The Gemini score and 0-3-vessel disease score estimated the severity and extent of coronary artery disease (CAD). Metabolic parameters and homeostasis model assessment for insulin resistance (IRI) were deter-mined. Results Serum level of fasting insulin, IRI and Gemini score were higher in TIMI 0-1 group than in TIMI 2-3 group [ (11.52±6.22)mU/L vs (7.54±3.65)mU/l,(2.79±2.32) vs (1.73±1.26),(59.17±26.95) vs ( 38.46±22.74) ( P <0.01)]. IRI was positively associated with Gemini score (r=0.185,P <0.05 ). Multivariate Logistic regression analysis revealed that IRI was independent risk factor influencing spontaneous recanalization of in-farct-related urteries(OR=2.87,95% CI=1.09-7.57,P<0.05). Conclusion Insulin resistance is independent risk factor influencing spontaneous recanalizafion of infarct-related arteries in the early phase of acute STEMI in pa-tients with normal glucose tolerance.