In recent years, the function of microphthalmia-associated transcription factor (MITF) is a hot field in melanoma.The abnormal expression of MITF is closely related to the occurrence and metastasis of melanoma.In addition, the down expression of MITF promotes its invasion.Studying the regulation of MITF and its related molecules and signaling pathways will let us further understand the molecule mechanism of malignant melanoma metastasis and provide help to exploit novel molecular targeted drug.

OBJECTIVE: To establish a genetic diagnosis method for a novel MSH2 mutation. METHODS: A specific primer on the mutated site of MSH2 was synthesized and PCR was conducted using the specific primer and another downstream primer. PCR products were electrophoresed and then the carriers with the novel gene mutation of the carriers or non-carriers were identified. RESULTS: MSH2 in a hereditary nonpolyposis colorectal cancer family were successfully found. CONCLUSION The method is effective and simple for genetic diagnosis of the novel mutation in MSH2.
Base Sequence ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; DNA Mutational Analysis ; methods ; Female ; Humans ; Male ; Molecular Sequence Data ; MutS Homolog 2 Protein ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction

A new production method of fracture fixation splint is introduced in the paper. The basic raw materials are multi-isocyanic acid, mixed with surfactants, catalysts, fillers, and so on. The splint, with light weight, high strength, and good injured anastomosis site, could be able to shape easily. It is dry and comfortable, avoiding a gas-tight uncomfortable feeling, easy to remove, remodel, nurse, clean and disinfect after fixed. Patients also could film review directly with fixed splint.
Equipment Design ; External Fixators ; Fracture Fixation

OBJECTIVETo understand the characteristics of HIV/AIDS patients with late diagnosis and find the factors associated with late HIV detection.

METHODSHIV late diagnosed patients and early diagnosed patients, which were identified and classified by definition in advance, were selected from the case reporting database of HIV/AIDS Comprehensive Response Information Management System in eight counties of four provinces (Zhumadian, Nanyang, and Zhoukou of Hennan province; Liuzhou and Lingshan county of Guangxi autonomous region; Guangzhou and Shenzhen of Guangdong province; Dehong of Yunnan province) between January 1, 2009 and June 30, 2010. A total of 3912 eligible patients were investigated, including 2496 late diagnosis and 1416 early diagnosis. The structured questionnaires were used to obtain information on behaviors, HIV detection history and reason of late detection for all eligible HIV/AIDS patients. Late diagnosed patients were defined by CD4 T-cell counts less than 200 cells/mm(3) or diagnosis as AIDS within the reported year after the first HIV positive test. The univariate and multivariate logistic regression methods were used to analyze the characteristics of HIV/AIDS late diagnosed patients.

RESULTSOnly 14.2% (350/2469) of them have ever had the awareness of "to go for HIV testing", 68.8% (150/218)of which did not put it into practice within one month because of discrimination and stigma. Among those HIV late diagnosed patients without the awareness of "to go for HIV testing", the proportions of "never worried about HIV infection" or "never heard of AIDS" were 69.7% (1476/2116) and 18.1% (383/2116), respectively. When those HIV late diagnosed patients visited health settings because of AIDS related symptoms, only 40.0% (590/1475) of them received the HIV testing service. Furthermore, 54.5% (322/590) of those received HIV testing were not informed the results. Compared with early diagnosed patients, patients with late diagnosis were over 50 years old (OR = 4.14, 95%CI: 3.09 - 5.55), primary school education (OR = 1.29, 95%CI: 1.10 - 1.52) and illiteracy (OR = 2.15, 95%CI: 1.25 - 2.82), Routes of transmission from former illegal blood or plasma (OR = 2.91, 95%CI: 2.27 - 3.74) and transfusion of blood/blood products (OR = 2.79, 95%CI: 2.11 - 3.68). Late diagnosed patients were identified mainly from voluntary counseling and testing (45.4%, 1130/1528) and medical institutions (38.3%, 954/1469).

CONCLUSIONThe main reasons for late diagnosis of HIV infection are low initiative of HIV testing and discrimination and stigma. Furthermore, the low awareness of medical institutions to actively provide HIV testing affects the early diagnosis of HIV infections.

Acquired Immunodeficiency Syndrome ; diagnosis ; epidemiology ; Adult ; China ; epidemiology ; Counseling ; Delayed Diagnosis ; Female ; HIV Infections ; diagnosis ; epidemiology ; Humans ; Male ; Mass Screening ; Middle Aged ; Risk Factors

Purpose:To investigate the effect of MMF on the postoperative infection after renal transplanta-tion. Methods: Before 1997, the CsA + Aza + prednisone were used as immunosuppresive agents postoperativelyfor 56 cases; Since 1998, drugs used for 34 cases were changed into MMF and CsA+MMF+prednisone respec-tively. The dose initially used for CsA was 65 mg/kg · d 1 in the patients of Aza group and 5 mg/kg · d 1 for theMMF group and then this dosage was regulated according to the determination of plasma level of the drug. Re-sults:The total infection rate of these 90 patients was 17.8%, 12 cases were infected in the Aza group (21.4%)and 11.8% (4 cases) in the MMF group. There were 2 patients died in the Aza group. Conclusions:The postop-erative infection rate of the patients underwent kidney transplantation might be reduced when MMF was used tosubstitute Aza during the period of postoperative management.

To investigate transcription factor PAX5 expression characteristics in childhood acute leukemic cells, expression levels of PAX5 and CD19 mRNA in 6 hematological tumor cell lines and bone marrow cells of 6 normal children, 58 de novo patients and 4 relapse acute leukemic children, including 39 cases of B-ALL, 10 cases of T-ALL and 13 cases of AML, were detected by a real-time RT-PCR. The results showed that PAX5 and CD19 mRNA expression levels were 2.35% and 2.52% in Namalwa (B-cell lines) respectively, but almost not detectable in other T- and myeloid cell lines. Among clinical samples, expression of PAX5 mRNA in B-ALL was significantly higher than that in T-ALL and AML (P = 0.029 and P = 0.013 respectively). PAX5 expression was significantly lower in T-ALL and AML than that in normal controls. The difference of PAX5 mRNA expression levels between T-ALL and AML was not significant. Individual difference of PAX5 mRNA expression levels in children with B-ALL was great. Moreover, PAX5 mRNA expressions in de novo and relapse patients with B-ALL were significantly higher than those in remission (P = 0.011 and P = 0.006 respectively). As binding sites for B-cell specific activator protein have been identified in the promoter regions of CD19, the study found that in B-ALL, there was clear correlation between the expression levels of PAX5 and CD19, which was also studied by real-time RT-PCR. It is concluded that PAX5 transcripts are readily detectable and quantifiable in clinical materials with B-ALL by real-time RT-PCR. The strong PAX5 mRNA expression in some B-ALL can be considered to be particularly interesting for further analysis.
Adolescent ; Antigens, CD19 ; biosynthesis ; genetics ; Cell Line, Tumor ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; PAX5 Transcription Factor ; biosynthesis ; genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; metabolism ; pathology ; RNA, Messenger ; biosynthesis ; genetics ; Transcription Factors ; biosynthesis ; genetics

OBJECTIVETo evaluate the safety and efficacy of needlescopic thoracic sympathectomy for palmar hyperhidrosis.

METHODSFrom March 2004 to April 2005, 62 patients, including 23 men and 39 women with a mean age of 23 years (ranged from 12 to 53 years), underwent bilateral needlescopic thoracic sympathectomy. Among all the patients 8 cases had accompanied axillary hyperhidrosis. The degree of palmar sweating was moderate in 16 cases and severe in 46 cases. The sympathetic chain on the body of the second and third ribs in all patients was cauterized and divided; the chain on the fourth rib in those with axillary hyperhidrosis was also severed. Intraoperative changes in palmar temperature and blood flow were recorded.

RESULTSSympathectomies were successful, and dry limbs were immediately achieved in all patients after surgery. There were no mortality or life-threatening complication, however 1 patient developed moderate pneumothorax which resolved soon after chest drainage. After all procedures, palmar blood perfusion increased significantly and mean palmar temperature elevated by 2.4 degrees C. The mean operative duration was 65 min, and the mean postoperative hospital stay was 1.2 days. No recurrence of palmar hyperhidrosis occurred after a mean follow-up of 6.3 months (ranged from 1 to 13 months). Compensatory sweating was found in 26 patients, but the symptoms were mostly tolerable and required no further treatment.

CONCLUSIONNeedlescopic thoracic sympathectomy is a safe and effective technique for palmar hyperhidrosis, which is less invasive than conventional video-assisted thoracic surgery.

Adolescent ; Adult ; Child ; Female ; Follow-Up Studies ; Hand ; Humans ; Hyperhidrosis ; surgery ; Male ; Middle Aged ; Sympathectomy ; methods ; Thoracic Surgery, Video-Assisted ; Treatment Outcome

OBJECTIVETo investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation.

METHODSGenomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP. Cell lines with genotypes differed from XRCC3-C241T were selected and irradiated in vitro. The CBFβ-MYH11 fusion gene was detected by TaqMan real-time PCR.

RESULTSThe XRCC3-C241T variant (C/T + T/T) showed 6.22-fold and 6.99-fold increase in the risk of developing the AML with inv(16)/t(16;16)/CBFβ-MYH11 as compared with the volunteer and family member controls respectively; the RAD51-G135C homozygote-type (C/C) variant showed 0.87-fold (P = 0.010) and 1.15-fold (P = 0.001) respectively increase in the risk of this subtype AML. In the irradiated group, the CBFβ-MYH11 mRNA level in HL-60 cells was 59.49 times increased than that in KG1a cells. However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t(15;17)/PML-RARα(+)AML, t(8;21)/AML1-ETO(+) AML and 11q23 AML subtypes.

CONCLUSIONThe XRCC3-C241T variant and the RAD51-G135C homozygote-type significantly increase the risk of the development of AML with inv(16)/t(16;16)/CBFβ-MYH11.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Child ; Child, Preschool ; DNA-Binding Proteins ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Leukemia, Myeloid, Acute ; etiology ; genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Polymorphism, Single Nucleotide ; Rad51 Recombinase ; genetics ; Translocation, Genetic ; Young Adult

OBJECTIVETo study the effect of Notoginsenoside Rgl on p38 mitogen activated protein kinase (p38MAPK) expression in pulmonary artery smooth muscle cells (PASMCs) cultured in hypoxia hypercapnia.

METHODSSD rat PASMCs was primary cultured, the cells of passage 2- 5 were divided into six groups: normoxic group (N group), hypoxia hypercapnia group (H group), dimethyl sulfoxide (DMSO) control group (HD group), Rg1 treated group (Rg low dose, Rg middle dose and Rg high dose group). Western blot was used to detect the expression of p-p38MAPK protein, and RT-PCR to determine the expression of p38MAPK mRNA.

RESULTSWestern blot and RT-PCR analysis indicated that the expression of p-p38MAPK protein and p-p38MAPK mRNA were significantly higher in HD group than those in N group (P < 0.01). Whereas, in Rg1 treated groups, the level of p-p38MAPK markedly decreased (P < 0.01) in dose-dependent manner.

CONCLUSIONNotoginsenoside Rg1 has protective effects on PASMCs under hypoxia hypercapnia condition, which may be related to inhibiting expression of p38MAPK.

Animals ; Cell Hypoxia ; Cells, Cultured ; Ginsenosides ; pharmacology ; Hypercapnia ; metabolism ; Male ; Muscle, Smooth, Vascular ; cytology ; drug effects ; Myocytes, Smooth Muscle ; drug effects ; Pulmonary Artery ; cytology ; RNA, Messenger ; genetics ; Rats ; Rats, Sprague-Dawley ; p38 Mitogen-Activated Protein Kinases ; metabolism

To approach the effect of CCAAT/enhancer binding proteins (C/EBPs) on un-terminal differentiation of HL-60 cells after treatment with Arsenic Trioxide ( As_2O_3) . Methods The changes of cell morphology were observed by Wright staining, the alteration in the cell proliferation was determined by WST1 experiment and the NBT reduction assay was used to detect the differentiation condition of cells, determination and analysis cell cycle. The expressions of C/EBP? and C/EBP? mRNA in HL-60 cells exposed to ATRA and As_2O_3 were assayed by semi-quantitative RT-PCR. Results It was found that ATRA could up- regulate the mRNA expression of C/EBP? obviously, but down-regulate the mRNA expression of C/EBP?. As_2O_3 could up-regulate the mRNA expression of C/EBP? lightly, down-regulate the expression of C/EBP?. Conclusion Both of ATRA and As_2O_3 can down-regulate the mRNA expression of C/EBP?,but there is no significant difference between these two groups,ATRA and As2O3 can up- regulate the mRNA expression of C/EBP?, with significant differences (P