Objective To detect ret mutations in two Chinese families with multiple endocrine neoplasia type 2A(MEN2A).Methods In our study,9 members from these two families including 3 patients were recruited.Polymerase chain reaction(PCR)and direct gene sequencing of PCR products by an automated DNA sequencer were applied to scan the entire 21 exons of ret proto-oncogene in the leukocyte DNA of the subjects.Results Two missense mutations were detected in exon11 of the ret proto-oncogene.One was C634R in the 2 patients from a family and the other was C634Y in 2 subjects from another family(one was the patient).Two heterozygous variants(A45A and L769L)in these 4 subjects were revealed.Conclusion Two mutations(C634R and C634Y)are detected in two families with MEN2A.Direct DNA sequencing analysis can diagnose MEN2A at gene level,which is helpful in making clinical management of the disease and in diagnosing earlier in their offspring.

Animals ; Beverages ; Macrophages ; drug effects ; metabolism ; Mice ; Mice, Inbred Strains ; Receptors, Complement 3b ; metabolism

Objective:To investigate the distribution of γδT17,Th17 and Tc17 cells in the lung of mice severely infected by influenza A(H1N1)pdm09 virus and the relationship between these cells with lung immunopathalogical injury.Methods:Intranasal infection was used to establish mouse model of severe H1N1 infection.Flow cytometry assay was used to detect the proportion and number of γδT17 cells,Th17 cells and Tc17 cells in the lung.The concentrations of interleukin-17A(IL-17A),interleukin-1β(IL-1β)and interleukin-23(IL-23) in the bronchoalveolar lavage fluid and serum were assayed by enzyme-linked immunosorbent assay and Lu-minex assay.Results:①The model of mice severely infected by influenza A(H1N1)pdm09 virus was established successfully.②The ratio of γδT cells,but not CD4+T and CD8+T cells in total lymphocytes of the lung of infected mice significantly increased compared with uninfected control mice at the third day post infection(DPI)(P<0.01).③The proportion and number of γδT17 cells,Th17 cells and Tc17 cells in total γδT cells,Th cells and Tc cells in the lung of infected mice were significant higher than that in uninfected control mice at the first DPI,respectively.However,the absolute number of γδT17 cells was far more than Th17 and Tc17 cells(P<0.05);④The concentration of IL-17A in BALF increased significantly after infection(P<0.05),and the concentration of IL-17A in serum increased significantly at the third DPI(P<0.05).The concentrations of both IL-1β and IL-23 in BALF probably participating in the activation of γδT17 cells increased significantly after infection compared with uninfected control mice.Conclusion:The γδT17 cells could be activated and secreted IL-17A via γδTCR non-depended pathway and involved in inflammatory pathological injury of lung at the early stage of severe H1N1 infection.

Objective: To investigate the symptoms of depression and anxiety and their influencing factors in adolescents undergoing facial scar plasty, so as to provide insights into psychological interventions among them. Methods: The patients with facial scars who were 14 to 25 years old and admitted to the Department of Plastic Surgery, Hospital of Dermatology Chinese Academy of Medical Sciences and Peking Union Medical College were selected. General information and scar condition were collected through questionnaire surveys. Symptoms of depression and anxiety were assessed using the Self-rating Depression Scale (SDS) and Self-rating Anxiety Scale (SAS). The patients who scored 50 points and over in both SDS and SAS were identified as having depression and anxiety symptoms. Factors affecting depression and anxiety symptoms were identified using a multivariable logistic regression model. Results: A total of 108 adolescents undergoing facial scar plasty were surveyed, with a mean age of (19.16±2.03) years. There were 50 boys (46.30%) and 58 girls (53.70%). Depression and anxiety symptoms were detected in 62 cases, accounting for 57.41%. Multivariable logistic regression analysis showed that girls (OR=1.547, 95%CI: 1.072-2.231), unhealthy diet (OR=1.428, 95%CI: 1.120-1.820), high scores of pain (OR=1.677, 95%CI: 1.120-2.511) and high scores of scar severity (OR=1.629, 95%CI: 1.112-2.387) were associated with increased risks of depression and anxiety symptoms in adolescents undergoing facial scar plasty, while high scores of social support (OR=0.569, 95%CI: 0.348-0.931) and high scores of resilience (OR=0.465, 95%CI: 0.252-0.858) were associated with decreased risks. Conclusion Depression and anxiety symptoms are relatively prevalent in adolescents undergoing facial scar plasty, and are influenced by gender, diet, pain degree, scar severity, social support and resilience.

Objective To investigate the changes of plasma somatostatin(SS) and its correlation with cellular immune function in neonates with hypoxic-ischemic encephalopathy(HIE).Methods Fifty cases of HIE were collected to detect the SS and T lymphocyte subsets,IL-2,sIL-2R as well as IL-6 levels by radioimmunoassay,APAAP and doule antibody sandwith ELISA methods.Results The SS and sIL-2R levels in patients with HIE were significantly higher(P

Objective To explore the value of 64-slice spiral CT angiography in diagnosis of pulmonary arteriovenous fistulas(PAVF).Methods 12 patients with suspect PAVF were performed by enhanced scan with 64-SliceCT.Two-dimensional and three-dimensional reformation were performed in all cases including coronal multiplanar reconstruction(MPR),maximum intensity projection(MIP),volume rendering(VR).Resnlts 12 cases were diagnosed as PAVF by 64-SliceCT angiography.Single PAVF in 7 cases,Multi-PAVF in 5cases.We found 20 lesions in 12 patients,Except direct multi-pulmonary arteriovenous fistulas in the area of near the heart in one case.Conclusion 64-slice spiral CT angiography is a useful and noninvasive means to identify PAVF and is also useful for therapeutic planning and postoperative follow-up.

Objective:To study influence factors on teaching quality,make use of ISO9000 to establish an evaluating system of teaching quality,make a model of teaching quality,offer a method for comprehensive management and offer a basis for continue improvement.Methods:Nominal group process,Delphi,and Cross-sectional study are adopted.Results:Making an evaluate index of system and establishing a model of teaching quality,the evaluating feedback etc.Conclusion:The principle of ISO9000 is embodied for the study method is scientific,the process of evaluation is feasible,index is all-sided and index system is flexible.

Objective To evaluate the influence and significance of preoperative design of surgical approach on stem cell transplantation via stereotactic surgery. Methods Six patients with stroke in the basal ganglia region were selected. The transplantation target and transcranial approach point were designed by magnetic resonance examination before stem cell transplantation via stereotacfic surgery to guarantee that the line connecting the transplantation target and transcranial approach point could avoid the important functional areas, the ventricular system and the softening focus. Postoperative magnetic resonance examination was performed to observe whether the practical target and surgical approach coincided with the preoperative design or not. Results The practical transplantation target was coincided with the designed transplantation target, distributed around the softening focus without implanted cells in the softening focus. Surgical approach was coincided with the preoperative design and it successfully avoided the important brain functional area, ventricular system and softening focus.Conelnsion The preoperative design of surgical approach can not only ensure the cells being exactly transplanted into the reservation target and guarantee the curative effect, but also promise the surgical approach successfully avoiding the important brain functional area, ventricular system and softening focus and reduce the operative injury.

Ankylosing spondylitis (AS) is a chronic inflammatory disease with early onset of reduced bone mineral density,which can lead to spinal deformity and even fracture,affecting patients′ quality of life seriously. To improve the compliance and long-term quality of life for AS patients, it is neccessary to enhance the awareness and knowledge of this disease among community primary health care providers.

Mean hemoglobin (Hb) concentration of about 3 500 subjects derived from 17 studies of Himalayan highlanders (Tibetans, Sherpas, and Ladakhis) was compared with lowlanders (Chinese Han, Indian Tamils) lived in the Himalayas, and European climbers during Everest expeditions as well as Andean natives. The results found that Hb concentration in Himalayan highlanders was systemically lower than those reported for Andean natives and lowland immigrants. These comparative data demonstrated that a healthy native population may successfully reside at high altitude without a significant elevation in Hb, and the lower Hb levels of Himalayan highlanders than those of migrated lowlanders and Andean natives are an example of favourable adaptation over the generations. In addition, excessive polycythemia has frequently been used as a marker of chronic mountain sickness (CMS). Altitude populations who have a higher Hb concentration also have a higher incidence of CMS. The low Hb in Himalayans suggested as showing adaptation over many generations in Tibetan stock. Recent work in Tibet, suggested that Tibetans there may have adapted to high altitude as a result of evolutionary pressure selecting for genes which give an advantage at altitude. All of the population genomic and statistical analysis indicated that EPAS1 and EGLN1 are mostly likely responsible for high altitude adaptation and closely related to low Hb concentration in Tibetans. These data supported the hypothesis that Himalayan highlanders have evolved a genetically different erythropoietic response to chronic hypoxia by virtue of their much longer exposure to high altitude.
Adaptation, Physiological ; Altitude ; Asian Continental Ancestry Group ; genetics ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; Evolution, Molecular ; Hemoglobins ; genetics ; Humans ; Hypoxia-Inducible Factor-Proline Dioxygenases ; genetics ; Tibet