Objective To detect the type of gene mutation of thalassemia in Kunming city.Methods Sixty-three cases highly suspec-tive of thalassemia were determined with the methods of ploymerase chain reaction(PCR) and reverse dot blot(RDB) for the type of gene mutation.Results According to gene analysis,35 cases were final diagnosed from 63 cases suspective of thalassemia.Among the total,4 cases were gene deficiency ?-thalassemia,and 30 cases were gene deficiency ?-thalassemia,and there was 1 case both ?-thalassemia and ?-thalassemia.There were 9 types of gene mutation with 15 gene combinations in 35 samples.The main type of ?-thalassemia was--SEA/??,there were 6 types with 11 gene combinations from the types of genes of ?-thalassemia,the highest incidence of gene mutation was 17 site,including 17 site homozygote,heterozygote and double heterozygote.Conclusions The thalassemia invasion of Yunnan has its characters,and it is valuable to launch further research.In the same patient,there are ?-thalassemia and ?-thalassemia,it signifies that those 2 types should be diagnosed in the same time,to prevent missed diagnosis.

Adenocarcinoma, Mucinous ; metabolism ; pathology ; surgery ; Carcinoid Tumor ; metabolism ; pathology ; surgery ; Chromogranin A ; metabolism ; Diagnosis, Differential ; Gastrectomy ; methods ; Gastrointestinal Stromal Tumors ; pathology ; Humans ; Male ; Middle Aged ; Neoplasms, Multiple Primary ; metabolism ; pathology ; surgery ; Stomach Neoplasms ; metabolism ; pathology ; surgery ; Synaptophysin ; metabolism

In this article, the Chinese Traditional Medicine and Materia Medica Subject Headings, Standards of the People's Republic of China - Classification and Codes of Diseases and Zheng of Traditional Chinese Medicine and the Chinese Terms in Traditional Chinese Medicine and Pharmacy were compared. Three standards were compared from the terminology quantity, content and classification. Each standard has its special feature. The compatibility and consistency are not strong in these standards. More authoritative traditional Chinese medicine terminology standards need to be established for the application in the clinical practice and scientific research.

Adult ; Diagnosis, Differential ; Follow-Up Studies ; Humans ; Knee Joint ; Male ; Mucin-1 ; metabolism ; Neurilemmoma ; metabolism ; pathology ; surgery ; S100 Proteins ; metabolism ; Sarcoma, Synovial ; metabolism ; pathology ; Sweat Glands

Melittin exhibits high antibacterial potency against drug-resistant bacteria. However, the clinical utility of melittin is limited by its serious hemolytic activity. Thus, the need for developing novel melittin analogues with high antimicrobial activity and low hemolytic activity has grown. We designed, synthesized, and evaluated 20 novel melittin analogues with varying hydrophobic, polar or positively charged amino acids. The results showed that 8 compounds had antimicrobial activity (MIC: 1-4 μg·mL^-1) against gram-positive pathogens equal to or better than that of melittin, and 16 compounds had low hemolytic activity (HC₅₀ ≥ 11.9 μg·mL^-1). Compounds 13 (MIC: 2-4 μg·mL^-1) and 15 (MIC: 1-2 μg·mL^-1) showed equal or better antimicrobial activity against both susceptible and resistant strains of Staphylococcus aureus and Enterococcus faecium compared to melittin (MIC: 4 μg·mL^-1). Compound 13 (HC₅₀: 24.0 ± 4.3 μg·mL^-1) displayed noticeably decreased hemolytic activity compared to melittin (HC₅₀: 5.3 ± 0.4 μg·mL^-1). This work established a base for further study on the structure-activity relationships and structure-toxicity relationships of melittin.

OBJECTIVETo report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP).

METHODSGenetic linkage analysis was performed on the known genetic loci for XLRP with a panel of polymorphic markers, then the mutations were identified by single-strand conformation polymorphism(SSCP) and direct sequencing.

RESULTSSignificant two-point Lod score was generated using marker DXS8025 (Zmax=2.4, theta =0). The disease gene locus was confined to Xp21.1 with further analysis of genetic linkage and haplotype. Mutations screening of RPGR gene in this family revealed a GA deletion at ORF15+483-484 which caused the open reading frameshift. This novel mutation co-segregated with the affected members of the pedigree, but it was not present in the unaffected relatives.

CONCLUSIONThe above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.

China ; DNA Mutational Analysis ; Eye Proteins ; genetics ; Family Health ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa ; genetics

OBJECTIVETo investigate the value of technetium-99m methoxyisobutylisonitrile ((99)Tc(m)-MIBI) imaging in predicting the efficacy of neoadjuvant chemotherapy (NCT) and prognosis in patients with operable breast cancer.

METHODSSixty five patients with breast cancer underwent (99)Tc(m)-MIBI scintimammography before NCT, and static planar images were taken at 10 min and 180 min after scintimammography. The clearance rate was calculated in each patient, correlation between the clearance rate and efficacy of NCT, and the disease free survival rate were analyzed.

RESULTSThe mean clearance rate of 65 patients was (17.4 ± 6.8)%. The efficacy of NCT was 86.2% (CR 4 cases, PR 52 cases, SD 8 cases, and PD 1 case), and the mean clearance rate of patients with good response or poor response of chemotherapy were (15.5 ± 5.0)% and (29.2 ± 3.2)%, respectively. There was a significant difference between the two groups. The average disease free survival rate in the group with low clearance rate was (75.8%, P = 0.046), significantly higher than that in the group with high clearance rate (53.1%).

CONCLUSIONScintimammography of (99)Tc(m)-MIBI may be used to evaluate the efficacy and prognosis of NCT for patients with operable breast cancer.

Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Breast Neoplasms ; diagnostic imaging ; drug therapy ; Carcinoma, Ductal, Breast ; diagnostic imaging ; drug therapy ; Carcinoma, Lobular ; diagnostic imaging ; drug therapy ; Chemotherapy, Adjuvant ; Cyclophosphamide ; therapeutic use ; Disease-Free Survival ; Epirubicin ; therapeutic use ; Etoposide ; therapeutic use ; Female ; Fluorouracil ; therapeutic use ; Follow-Up Studies ; Humans ; Middle Aged ; Neoadjuvant Therapy ; Neoplasm Staging ; Predictive Value of Tests ; Radionuclide Imaging ; Radiopharmaceuticals ; Remission Induction ; Taxoids ; therapeutic use ; Technetium Tc 99m Sestamibi

OBJECTIVETo evaluate the relationship between the clearance rate of technetium-99m methoxyisobutylisonitrile ((99m)Tc-MIBI) in scintimammography and multidrug-resistant proteins expression in breast cancer tissues.

METHODSSeventy-six patients with breast cancer underwent (99m)Tc-MIBI scintimammography before treatment, and static planar images were taken at 10 min and 180 min after scintimammography. The clearance rate of (99m)Tc-MIBI was calculated in each patient. Immunohistochemical analysis was performed on pathological specimens of the 76 breast tumors to determine the expression of P-glycoprotein (P-gp), glutathione S-transferase Pi (GST-pi) and topoisomerase II (Topo II).

RESULTSThe clearance rate was significantly higher in 36 patients with positive P-gp expression when compared with that in 40 patients with negative P-gp expression. There was no significant relationship between GST-pi, Topo II and the clearance rate of (99m)Tc-MIBI.

CONCLUSIONThe clearance rate of (99m)Tc-MIBI in breast imaging may be used to evaluate the P-gp level in breast cancers.

ATP Binding Cassette Transporter, Sub-Family B ; analysis ; Adult ; Aged ; Breast Neoplasms ; chemistry ; diagnostic imaging ; Carcinoma, Ductal, Breast ; chemistry ; diagnostic imaging ; DNA Topoisomerases, Type II ; analysis ; Drug Resistance, Multiple ; Female ; Glutathione S-Transferase pi ; analysis ; Humans ; Immunohistochemistry ; Middle Aged ; Multidrug Resistance-Associated Proteins ; analysis ; Radionuclide Imaging ; Radiopharmaceuticals ; Technetium Tc 99m Sestamibi

BACKGROUNDNumerous studies have shown that reducing the level of tumor necrosis factor-alpha (TNFα) through the use of anti-TNF antibodies or soluble TNF receptor is a safe and efficacious treatment to inflammatory diseases such as rheumatoid arthritis. Therefore, novel approaches to achieve this outcome are desired. The aim of this study was to investigate the characterization of a small molecule inhibitor, Y316, which blocks TNF mRNA upregulation and TNF production by lipopolysaccharides (LPS) stimulated monocytes.

METHODSPeripheral blood mononuclear cells (PBMC) from healthy volunteers were plated in 24-well plates and stimulated with LPS (1 µg/ml), phorbol-12-myristate-13-acetate (PMA) (100 ng/ml), zymosan (10 µg/ml) and Tsst (100 ng/ml). Supernatants were collected after 4-hour culture at 37°C, and quantitative determination of TNFα, interleukin-1β (IL-1β), IL-6, IL-8, IL-10 and IL-2 production in the supernatants was performed by colorimetric enzyme-linked immunosorbent assay (ELISA). Total RNA of PBMC was isolated and cytokine mRNA quantitation was performed by using a RNA level measuring kit (R & D Systems). PBMC were pretreated with Y316 (10 µmol/L, 1 µmol/L, 0.1 µmol/L, 0.01 µol/L and 0.001 µmol/L) or dimethyl sulfoxide at 37°C for 10 minutes, and then stimulated with LPS or PMA, protein concentrations of p44.42, IKBα, P38 and Jun NH2-terminal kinase were determined by Western blotting. Cyclic adenosine-3',5'-monophosphate (cAMP) of PBMC was measured by enzyme immunoassay kit (Amersham Pharmacia Biotech).

RESULTSY316 blocked TNF production and inhibited the upregulation of TNF mRNA levels in response to LPS, and also prevented the production of IL-1 and IL-6. In contrast, Y316 augmented the production of IL-10 in LPS-stimulated monocytes. Y316 failed to prevent the production of IL-2 and TNF in antigen-stimulated T cells, suggesting that its effects may be cell-type specific. Y316 prevented the phosphorylation and activation of the MAPK, ERK, and therefore appeared to mediate its effects on TNF by acting at an early point in the signaling cascade induced in response to LPS. There was no effect of Y316 on cAMP levels either alone or in the presence of LPS.

CONCLUSIONSY316 appears to be a small molecule inhibiting TNF production, which may act via a novel mechanism. Identification of the target of Y316 may lead to the development of alternative strategies for achieving selective cytokine inhibition.

Anti-Inflammatory Agents ; pharmacology ; Extracellular Signal-Regulated MAP Kinases ; metabolism ; Humans ; Interleukin-1 ; antagonists & inhibitors ; biosynthesis ; Interleukin-6 ; antagonists & inhibitors ; biosynthesis ; Lipopolysaccharides ; pharmacology ; Monocytes ; drug effects ; immunology ; Phosphorylation ; Tumor Necrosis Factor-alpha ; antagonists & inhibitors ; biosynthesis

Objective To investigate the psychologic status of irritability, depression and anxiety in patients who underwent intrauterine insemination (IUI) and to provide mental nursing care. Methods This study included 120 infertile patients who underwent IUI treatment from August 2008 to September 2009 in infertility clinics. All patients were divided into two groups randomly and assessed with the Irritability,Depression and Anxiety Scale (IDA). The 60 patients in control group were treated according to the standard IUI procedure, while the patients in study group were given mental nursing additionally. IDA scores before and after psychological intervention and clinical pregnancy rate were compared between the two groups. Results The IDA scores decreased obviously after mental nursing in study group (P ＜0.05 ). The clinical pregnancy rate per cycle was much higher in study group than that in control group ( P ＜ 0.05). Conclusions IDA can be applied to the psychological investigation of IUI patients. Efficient mental nursing care is beneficial to the success of IUI.