Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that has an impact on many organ systems.It is a common neurocutaneous syndrome in children, the main clinical manifestations characterized by impairment of skin and nervous system.The most frequent neurological symptoms are seizures,which occur in up to 90％ of patients and often are intractable,followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep, et al.Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control.Currently, there are many studies focus on the mechanism-based treatment in TSC.Therefore, this review will focus on the genetic mechanism of TSC, further exploring personalized medicine and prognosis for TSC shows good prospects.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Autoantibodies ; biosynthesis ; Case-Control Studies ; Child ; Female ; Humans ; Immunoglobulin G ; biosynthesis ; Male ; Middle Aged ; Pancytopenia ; immunology ; pathology ; Receptors, Erythropoietin ; physiology ; Young Adult

Objective To observe the changes in sublingual collateral vessels of elderly patients with diabetes. Methods Sublingual collateral vessels of 88 patients with diabetes were observed and compared with that of 76 normal people. Results The changes in sublingual collateral vessels of patients with diabetes were more serious than that of normal people (u=4.174, P

Objectives To analyze the mechanisms and implications involved in the generation of platelet associated antibodies in cancer patients.Methods HLA IgG antibody from 116 cancer patients who had received repeated platelet transfusion (more than 3 times) was screened by ELISA and the GTI QUICKSCREEN kit. The positive samples from the initial screening were confirmed for HLA and HPA antibodies using the PAKPLUS reagent. Patients with antibodies were observed for symptoms and clinical effectiveness of platelet transfusions. Results A total of 44 cases of HLA IgG antibody were screened out of 116 samples, with an antibody rate of 37.93%. Among those 44 samples, 18 were confirmed to contain anti-HLA-Ⅰantibody, 8 with anti-HPA antibody, 10 with both anti-HPA and anti-HLA antibodies, and 8 were not identified. The occurrence of antibodies was positively correlated to the times of platelet transfusions and correlated to the improvement of clinical symptoms (P

Objective: To observe the effects of Jinqi Jiangtang Tablet, a compound Chinese herbal medicine, on serum matrix metalloproteinase-9 (MMP-9) level and MMP-9 expression in peripheral blood monocytes of rats with streptozocin-induced diabetes. Methods: Thirty Wistar rats were randomly divided into 3 groups: control group, untreated group and Jinqi Jiangtang Tablet group. Diabetes in rats was induced by a single intraperitoneal injection of streptozocin (70mg/kg body weight). After model building, rats in the Jinqi Jiangtang Tablet group were administered with Jinqi Jiangtang tablets at a dose of 0.8 g/(kg·d) for 6 weeks and rats in the control group and the untreated group were treated with normal saline. After treatment, level of fasting serum glucose was detected by hexokinas method; serum MMP-9 level was tested by enzyme-linked immunosorbent assay; MMP-9 expression in peripheral blood monocytes was measured by reverse transcription-polymerase chain reaction and Western blot method. Results: After treatment, fasting serum glucose level in the Jinqi Jiangtang Tablet group was less than that in the untreated group (P<0.05). After modeling, the serum MMP-9 level of rats in the untreated group was (9.11±3.55) μg/L and that in Jinqi Jiangtang Tablet group was (8.97±3.07) μg/L, which were higher than that in the control group ((4.39±1.44) μg/L) (P<0.01). After gavage, the level of serum MMP-9 was lower in Jinqi Jiangtang Tablet group than in the untreated group (P<0.05). The expression of MMP-9 in peripheral blood monocytes in the untreated group was higher than that in the control group (P<0.05). The MMP-9 expression in peripheral blood monocytes of rats with diabetes was down-regulated by Jinqi Jiangtang Tablet (P<0.05). Conclusion: Jinqi Jiangtang Tablet can decrease the level of serum MMP-9 and down-regulate the MMP-9 expression in peripheral blood monocytes at both mRNA and protein levels in rats with diabetes.

People wearing positive pressure biological protective suits might face some potential safety risks when work -ing in a high-risk biological contamination environment .These risks could be effectively prevented by simulation experi-ments.This paper elaborates on the progress in risk studys on positive pressure biological protective suits in terms of dynam -ic detection methods and risk assessment , and points out the problems to be solved and the direction of future development .

Objective To investigate the status and influencing factors of pleasant events among community-dwelling dementia patients. Methods Totally 266 community-dwelling dementia patients were recruited from Bei-jing,Guangzhou and Tianjin,and were investigated with the Chinese-version Pleasant Events Schedule-AD(PES-AD). Results The overall score of PES-AD was (14.0±6.7). The factor scores from high to low were sensory stimulation activities(0.9±0.5),family activities(0.8±0.5),emotional stimulation activities(0.8±0.4) and autonomy activities(0.6± 0.5). Multiple linear regression showed that the severity of disease,without chronic disease,educational level of de-mentia patients and their caregivers were significant influencing factors of pleasant events,which explained 41.1% of the total variance. Conclusion Sensory stimulation activities of community-dwelling dementia patients were relatively satisfactory,followed by family activities and emotional stimulation activities,but autonomy activities were relatively unsatisfactory. It is suggested to choose appropriate pleasant activities according to the severity of disease for de-mentia patients to improve their quality of life.

Objective:To investigate the expression of wild type estrogen receptor(wER)and the ex-on-5 deleted ER(variant ER,vER)in human hepatocellular carcinoma(HCC)samples,and thereafteranalyze the possibility of HCC treatment by endocrine therapy.Methods:The mRNA expressions of wERand vER were analysed from 28 cases of HCC by RT-PCR.The expression of ER at the protein level wasdetected by immunohistochemistry(IHC).Results:IHC results showed that 39.3% of the HCC speci-mens expressed ER.The mRNA of wER was detected in 89.3%(25/28)of the HCC specimens whilethat of vER was detected in 96.4%(27/28).Twenty four out of 28 HCC cases(85.7%)expressedboth wER and vER.One out of 28 patients(3.5%)expressed only wER whereas 3 patients out of 28(10.7%)expressed vER only.Conclusion:Ninety six percent(27/28)of the HCC patients expressedvER,which suggests that the expression of vER is an important event in the development of HCC.

Anemia, Hemolytic, Autoimmune ; etiology ; Female ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Complications ; Sjogren's Syndrome ; complications