Child ; Diabetes Mellitus, Type 1 ; genetics ; Female ; Humans ; Infant ; Male ; Siblings

Adrenocorticotropic Hormone ; therapeutic use ; Brain-Derived Neurotrophic Factor ; physiology ; Child, Preschool ; Female ; Humans ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Rett Syndrome ; drug therapy ; genetics

Adolescent ; Cerebellar Diseases ; diagnosis ; drug therapy ; etiology ; Cerebellum ; physiopathology ; Child ; Child, Preschool ; Cognition Disorders ; diagnosis ; drug therapy ; etiology ; Female ; Humans ; Infant ; Male ; Mood Disorders ; diagnosis ; drug therapy ; etiology

Epilepsy ; diet therapy ; metabolism ; Food-Drug Interactions ; Humans ; Ketone Bodies ; biosynthesis

Objective To observe the Pin1 expression pattern in skin and to establish an inducible skin specific Pin1 overexpression mouse model. Methods The mouse Pin1 gene was cloned into modified vector pTRE2 with C?terminal Myc tag. The linearized pTRE2?Pin1 DNA was micro?injected into one?cell embryos followed by implantation into foster mice to produce TRE?Pin1 transgenic mice. Results TRE?Pin1 transgenic founder mice were successfully created. These mice were crossed with transgenic tool mice K14?rtTA to create epithelial specific double transgenic progenies. Pin1 gene was induced by incorporating doxycycline into drinking water of the mice. Pin1 protein overexpression in the skin was con?firmed by Western blot and immunohistochemistry. The endogenous Pin1 protein was predominantly expressed in epidermal cells in the skin. Conclusions The inducible skin specific Pin1 overexpression mouse model is successfully established which may serve as a useful model for further study of Pin1 functions in the skin.

Objective:This work aims to investigate diallyl disulfide (DADS) inhibition of cell migration and invasion in human colon cancer SW480 cells through the Rac1-ADF/cofilin1 pathway. Methods:The potential of cell migration and invasion was examined by scratch healing assay and transwell membrane assay. The expression of Rac1-ADF/cofilin1 pathway was detected by RT-PCR and Western blot. Results:After the SW480 cells were treated with 40 and 50 mg·L-1 of DADS for 24 h, the number of transmembrane cells through the Matrigel obviously decreased by 57.12%and 64.59%, respectively (P<0.05). After cell treatment for 48 h, the cell migration rates were 23.23%and 12.87%, which were significantly lower compared with the control group (75.86%;P<0.05). After the cells were treated with 45 mg·L-1 of DADS for 24 and 48 h, the expression of Rac1, Rock1, PAK1, LIMK1, and destrin mRNA respectively decreased compared with the control group (P<0.05). However, no significant difference was observed in the expression of cofilin1 mRNA (P>0.05). After the treatment with 45 mg·L-1 of DADS for 6, 12, 24, and 48 h, the expression of Rac1, Rock1, PAK1, LIMK1, and Destrin proteins respectively decreased in a time-dependent manner compared with the control group (P<0.05). However, no significant differences were observed in the expression of the cofilin1 protein (P>0.05). Moreover, the expression of p-LIMK1 and p-cofilin1 notably decreased in a time-dependent manner (P<0.05). Conclusion:DADS inhibits cell migration and invasion, which is related to the down-regulation of Rac1, Rock1, PAK1, LIMK1, p-LIMK1, p-cofilin1, and destrin through the Rac1-ADF/cofilin1 pathway.

Objective To review the clinical characteristics of paraganglioma of the urinary bladder with 5 cases reprt.Methods The clinical data of 5 patients (2 males and 3 females,age 23-68 years)with paraganglioma of the urinary bladder were reported.Two cases were diagnosed by ultrasonography during health examination,1 case was found by hematuria,1 had difficulty of voiding,and 1 presented with palpitation,chest discomfort while urination.Two cases were clinical diagnosed as bladder paraganglioma,1case urachal carcinoma,and 2 cases bladder tumor.Cystoscopy showed a protruding tumor within the bladder or bladder had compressed changes.One case of tumor located in the triangle,1 in the posterior wall,1in the top,2 in the anterior wall.Three cases of biopsy were negative.Three cases of preoperative endocrine examinations showed norepinephrine significantly higher.Results Laparoscopic partial cystectomy was performed in 3 cases,open partial cystectomy in 1 case,and transurethral resection of bladder tumor (TURBT) in 1 case.One case had the complication of stress cardiomyopathy during TURBT,3 cases found intraoperative hypertensive crisis.The bleeding volume was 20-800 ml (average 126 ml),and I case received blood transfusion.During the follow-up period for 3-48 months,the blood pressure was normal,and no recurrence was found.Conclusions Bladder paraganglioma is uncommon and easily misdiagnosed.For the patients with bladder tumor,accompanied by changes in blood pressure,palpitations during urination should be highly suspicious of bladder paraganglioma.Partial cystectomy is the main treatment method.

Genuine medicinal materials with special characteristics of Traditional Chinese Medicine (TCM), is recognized as high quality medicine. Both ancient records and modern research considered that the origin is an important reason for the formation of genuine medicinal materials. However, blindly transplanting of genuine medicinal materials has led to the quality decline and counterfeit medicines appeared in production or sale progress, which may increase the risk of accidents in TCM. Frequent accidents emerged in Chinese herbal affects its export. What's more, it is a great threat to the medication safety in TCM clinical. There is an urgent need to implement traceability systems of TCM, which could provide convenient information record and traceability of TCM circulation. This paper reviews a variety of technical methods for genuine medicinal materials traceability, and proposed the establishment of genuine medicinal materials traceability system based on two-dimensional code and network database.
Databases, Factual ; Drugs, Chinese Herbal ; chemistry ; economics ; standards ; Medicine, Chinese Traditional

Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.They were treated with special diet and medicine after diagnosis.Result The improvement of mental development was observed after treatment.Conclusions Most of organic acidemias involve nervous systems,causing non-specific symptoms of nervous system as lethergy,seizures,mental retardation.Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated.GC/MS is a very important method in diagnosis of organic acidemias.Early diagnosis and early treatment can improve the mental prognosis.

0.05).Conclusions Both CBZ and OXC are effecive in treating typical frontal lobe seizures.