Objective To make a molecular genetic analysis in a Chinese family with piebaldism,in order to find the causative mutation of this disease.Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family.Ploymerase chain reaction (PCR),reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene.Results A novel heterozygous mutation c.2472+1G>A in kit gene.which leads to the loss of 3' splicing site in exon 17 followed by the absence of exon 17,was found in all affected members,but not in an unaffected member in the family.Conclusion The novel mutation c.2472+1G>A may be associated with piebaldism initiation in this family.

OBJECTIVETo compare clinical therapeutic effects of acupuncture, moxibustion, acupuncture plus moxibustion at Weiwanxiashu (EX-B 3) on diabetes.

METHODSSeventy-nine cases of type 2 diabetes were randomly divided into 3 groups: acupuncture group (A), moxibustion group (B) and acupuncture plus moxibustion group (C) and Weiwanxiashu (EX-B 3) was selected in the 3 groups. The main clinical symptoms, fasting blood glucose, 24 hurinal glucose, glycosylated hemoglobin, and blood lipids were investigated and compared before and after treatment.

RESULTSAfter treatment, the clinical symptoms significantly improved; fasting blood glucose, 24 h-urinal glucose, glycosylated hemoglobin, and cholesterol, triglyceride, low density lipoprotein all decreased in varying degrees, and the high density lipoprotein increased (P < 0.05) in all of the 3 groups, with the effects being the best in the acupuncture plus moxibustion group.

CONCLUSIONAcupuncture, moxibustion, or acupuncture plus moxibustion at Weiwanxiashu (EX-B 3) is an effective therapy for diabetes, and the acupuncture plus moxibustion has a better result.

Acupuncture Points ; Acupuncture Therapy ; methods ; Adult ; Aged ; Blood Glucose ; analysis ; Diabetes Mellitus, Type 2 ; therapy ; Female ; Humans ; Male ; Middle Aged ; Moxibustion ; methods

Objective To investigate the serum levels of vascular endothelial growth factor (VEGF) and C-reactive protein (CRP) in patients with acute intra-cerebral hemorrhage and explore their significance. Methods Seventy-eight patients with acute intra-cerebral hemorrhage (the mild,n=39; the moderate,n=25; and the severe,n=14),treated in our hospital from August 2008 to August 2011,were selected in this research, and 78 healthy controls received healthy examination at the same time were also selected.Enzyme-linked immunoassay (ELISA) was used to detect the serum level of VEGF,while immunoturbidimetry was used to detect the serum level of CRP. Results The levels of VEGF and CRP of acute intra-cerebral hemorrhage patients were all significantly higher than those of healthy persons (P＜0.05); VEGF and CRP serum levels in severe, were decreased in turn with significant difference (P＜0.05).And VEGF and CRP serum levels of dead patients (n=16) were also significantly higher than those of survive patients (n=62, P＜0.05). Conclusion VEGF and CRP serum levels of acute intra-cerebral hemorrhage patients are significantly higher than those of healthy persons, and they all have strong positive relationship with the seventy and prognosis of the disease.

OBJECTIVETo provide guidance for selection and breeding of Pesudostellaria heterophylla, agronomic traits of 3 mainly cultivated form of P. heterophylla were observed and compared in Guizhou shibing.

METHODThirteen agronomic traits of P. heterophylla from 3 cultivation form were measured and the traits were analyzed using multiple comparison, correlation analysis, multiple stepwise regression analysis and path analysis.

RESULTThe results showed that agronomic traits were different in 3 cultivation form, significant(P <0.05)or very significant correlated (P <0.01)among multiple agronomic traits, the width and the number of root, the first branch number, cleistogamous flowers, length and width of leaves, and the aboveground biomass were the main factors that affected the underground biomass, and the number of root, the aboveground biomass had a directly positive effect on the underground biomass. Meanwhile, whole length, length and width of leaves, cleistogamous flowers etc. had direct or indirect effect on the underground biomass.

CONCLUSIONAboveground biomass would be as the best indirect selection traits on breeding high yield of P. heterophylla, the first branch number, width of leaves and cleistogamous flowers world be as a better auxiliary index on breeding high variety of P. heterophylla.

Agriculture ; economics ; Animals ; China ; Hemiptera ; anatomy & histology ; growth & development ; Regression Analysis

Increasing evidence has revealed that maternal cytomegalovirus (CMV) infection may be associated with neurodevelopmental disorders in offspring.Potential relevance between the placental inflammation and CMV-related autism has been reported by clinical observation.Meanwhile,abnormal expression of Toll-like receptor 2 (TLR2) and TLR4 in placenta of patients with chorioamnionitis was observed in multiple studies.IL-6 and IL-10 are two important maternal inflammatory mediators involved in neurodevelopmental disorders.To investigate whether murine CMV (MCMV) infection causes alterations in placental IL-6/10 and TLR2/4 levels,we analyzed the dynamic changes in gene expression of TLR2/4 and IL-6/10 in placentas following acute MCMV infection.Mouse model of acute MCMV infection during pregnancy was created,and pre-pregnant MCMV infected,lipopolysaccharide (LPS)-treated and uninfected mice were used as controls.At E13.5,E14.5 and E18.5,placentas and fetal brains were harvested and mRNA expression levels of placental TLR2/4 and IL-6/10 were analyzed.The results showed that after acute MCMV infection,the expression levels of placental TLR2/4 and IL-6 were elevated at E13.5,accompanied by obvious placental inflammation and reduction of placenta and fetal brain weights.However,LPS 50 μg/kg could decrease the IL-6 expression at E13.5 and E14.5.This suggests that acute MCMV infection during pregnancy could up-regulate the gene expression of TLR2/4 in placental trophoblasts and activate them to produce more proinflammatory cytokine IL-6.High dose of LPS stimulation (50 tg/kg) during pregnancy can lead to down-regulation of IL-6 levels in the late stage.Imbalance ofIL-6 expression in placenta might be associated with the neurodevelopmental disorders in progeny.

BACKGROUNDConventional treatment for non-small cell lung cancer (NSCLC) brain metastases (BM) is whole-brain radiotherapy (WBRT). The efficacy is limited. It might be increased by a potent radiosensitizer such as gemcitabine, which is believed to cross the disrupted blood-brain barrier. The primary objective of this study was to determine the maximum tolerated dose (MTD) of weekly gemcitabine given concurrently with WBRT.

METHODSPatients with BM from NSCLC were included. The dose of WBRT was 3750 cGy (total 15 times, 3 weeks). Gemcitabine was given concurrently with WBRT on days 1, 8 and 15. The starting dose was 400 mg/m(2), escalated by 100 mg/m(2) increments. At least three patients were included per level. Dose limiting toxicity (DLT) was defined as grade 4 hematological or grade 2 neurological toxicity. When two or more patients experience DLT, the MTD was reached.

RESULTSA total of 16 patients were included; 69% had a performance status (PS) 1 (Eastern Cooperative Oncology Group, ECOG). A total of 69% had concurrent active extra cranial diseases. All had more than 3 BM. Up to 600 mg/m(2) (level 3) no neurology toxicity was observed. At 600 mg/m(2) two out of 9 patients developed grade 4 thrombocytopenia. One of the two patients' thrombocytopenia was confused with disseminated intravascular coagulation (DIC). At 700 mg/m(2) two out of 4 patients developed neurotoxicities. One developed grade 3 seizure and cognitive disorder. Another patient developed suspected grade 2 muscle weakness.

CONCLUSIONSThe MTD was reached at a dose of 700 mg/m(2). The dose of 600 mg/m(2) would be considered for further study.

Aged ; Brain Neoplasms ; radiotherapy ; secondary ; Carcinoma, Non-Small-Cell Lung ; pathology ; Cranial Irradiation ; Deoxycytidine ; administration & dosage ; adverse effects ; analogs & derivatives ; pharmacokinetics ; Female ; Humans ; Lung Neoplasms ; pathology ; Male ; Maximum Tolerated Dose ; Middle Aged ; Radiation-Sensitizing Agents ; administration & dosage

From June 1998 to July 2004, Guangzhou umbilical cord blood bank provided unrelated umbilical cord blood for 54 patients to more than 21 transplantation centers. HLA sequencing-based typing (SBT) was used to re-analyze the results of HLA antigens and alleles so as to investigate the relationship between HLA alleles and GVHD. The information about 48 out of 54 patients was obtained after 6 months of follow up. SBT was used to identify HLA-A, B, DRB1 alleles in 48 patients received the unrelated umbilical cord blood units, and the obtained results were compared with the results of HLA-SSP Low Resolution Typing. The results showed that the difference of GVHD incidence between less than 2 mismatched HLA sites and less than 3 sites was statistically significant (P < 0.05). In the results from single factor analysis and high-resolution typing of HLA-A, B and DRB1 alleles, the mismatch between HLA-B and HLA-DRB1 alleles was found to be a significant factor for the occurence of GVHD. It is concluded that SBT plays an important role in umbilical cord blood transplantation, and the incidence of GVHD is higher in the transplantation with HLA-DRB1 alleles mismatching.
Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Cord Blood Stem Cell Transplantation ; adverse effects ; Female ; Fetal Blood ; cytology ; immunology ; Graft vs Host Disease ; prevention & control ; HLA-A Antigens ; genetics ; immunology ; HLA-B Antigens ; genetics ; immunology ; HLA-DR Antigens ; genetics ; immunology ; HLA-DRB1 Chains ; Histocompatibility Testing ; methods ; Humans ; Leukemia ; therapy ; Male ; Middle Aged ; Sequence Analysis

BACKGROUND AND OBJECTIVERadiotherapy is effective in treating nasopharyngeal carcinoma (NPC). This study evaluated the treatment efficacy, toxicity, and prognostic factors of intensity-modulated radiotherapy (IMRT) in the treatment NPC.

METHODSBetween September 2003 and September 2006, 305 patients with NPC were treated with IMRT in Fujian Provincial Cancer Hospital. IMRT was delivered as follows: gross tumor volume (GTV) received 66.0-69.8 Gy in 30-33 fractions, high-risk clinical target volume (CTV-1) received 60.0-66.65 Gy, low-risk clinical target volume (CTV-2) and clinical target volume of cervical lymph node regions (CTV-N) received 54.0-55.8 Gy. Patients with stages III or IV disease also received cisplatin-based chemotherapy. All patients were assessed for local-regional control, survival, and toxicity.

RESULTSWith a median follow-up of 35 months (range, 5-61 months), there were 16, 8, and 39 patients who had developed local, regional, and distant recurrence, respectively. The 3-year rates of local control, regional control, metastasis-free survival, disease-free survival, and overall survival were 94.3%, 97.7%, 86.1%, 80.3%, and 89.1%, respectively. Multivariate analyses revealed that T-classification had no predictive value for local control and survival, whereas N-classification was a significant prognostic factor for overall survival (P < 0.001), metastasis-free survival (P < 0.001), and disease-free survival (P = 0.003). For stages III-IV disease, concurrent and adjuvant chemotherapy did not influence prognosis. The most severe acute toxicities included Grade III mucositis in 14 patients (4.6%), Grade III skin desquamation in 90 (29.5%), and Grades III-IV leucocytopenia in 20 (6.5%). There were 7% patients with Grade II xerostomia after 2 years of IMRT, no Grades 3 or 4 xerostomia was detected.

CONCLUSIONSIMRT provided favorable locoregional control and survival rates for patients with NPC, even in those with locally advanced disease. The acute and late toxicities were acceptable. N-classification was the main factor of prognosis. Further study is needed on chemotherapy for patients with NPC.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Child ; Cisplatin ; administration & dosage ; Combined Modality Therapy ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Leukopenia ; etiology ; Lymphatic Metastasis ; Male ; Middle Aged ; Mucositis ; etiology ; Nasopharyngeal Neoplasms ; drug therapy ; pathology ; radiotherapy ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Radiotherapy Dosage ; Radiotherapy, Intensity-Modulated ; adverse effects ; methods ; Retrospective Studies ; Survival Rate ; Xerostomia ; etiology ; Young Adult

Angiotensin II ; pharmacology ; Animals ; Base Sequence ; Cell Division ; Collagen ; biosynthesis ; Liver ; cytology ; metabolism ; Liver Cirrhosis ; etiology ; Molecular Sequence Data ; Proline ; metabolism ; RNA, Messenger ; analysis ; Rats ; Receptor, Angiotensin, Type 1 ; genetics

BACKGROUNDMany studies have suggested that the imbalance of angiogenic factor and anti-angiogenic factor expression contributes significantly to the development of choroidal neovascularization (CNV), and ultrasound microbubble combination system can increase the gene transfection efficiency successfully. This study was designed to investigate whether ultrasound-mediated microbubble destruction could effectively deliver therapeutic plasmid into the retina of rat, and whether gene transfer of pigment epithelium-derived factor (PEDF) could inhibit CNV.

METHODSHuman retinal pigment epithelial cells were isolated and treated either with ultrasound or plasmid alone, or with a combination of plasmid, ultrasound and microbubbles to approach feasibility of microbubble-enhanced ultrasound enhance PEDF gene expression; For in vivo animal studies, CNV was induced by argon lasgon laser in rats. These rats were randomly assigned to five groups and were treated by infusing microbubbles attached with the naked plasmid DNA of PEDF into the vitreous of rats followed by immediate ultrasound exposure (intravitreal injection); infusing liposomes with the naked plasmid DNA of PEDF into the vitreous (lipofectamine + PEDF); infusing microbubbles attached with PEDF into the orbit of rats with ultrasound irradiation immediately (retrobular injection); infusing microbubbles attached with PEDF into the femoral vein of rats with exposed to ultrasound immediately (vein injection). The CNV rats without any treatment served as control. Rats were sacrificed and eyes were enucleated at 7, 14, and 28 days after treatment. Gene and protein expression of PEDF was detected by quantitative real-time RT-PCR, Western blotting and immunofluorescence staining, respectively. The effect of PEDF gene transfer on CNV was examined by fluorescein fundus angiography.

RESULTSIn vitro cell experiments showed that microbubbles with ultrasound irradiation could significantly enhance PEDF delivery as compared with microbubbles or ultrasound alone. In the rat CNV model, transfection efficiency mediated by ultrasound/microbubbles was significantly higher than that by lipofectamine-mediated gene transfer at 28 days after treatment. The study also showed that with the administration of ultrasound-mediated microbubbles destruction, the CNV of rats was inhibited effectively.

CONCLUSIONSUltrasound-microbubble technique could increase PEDF gene transfer into rats' retina and chorioid, in association with a significant inhibition of the development of CNV, suggesting that this noninvasive gene transfer method may provide a useful tool for clinical gene therapy.

Animals ; Cells, Cultured ; Choroidal Neovascularization ; prevention & control ; Eye Proteins ; genetics ; Female ; Genetic Therapy ; Humans ; Microbubbles ; Nerve Growth Factors ; genetics ; RNA, Messenger ; analysis ; Rats ; Rats, Long-Evans ; Retina ; metabolism ; Serpins ; genetics ; Transfection ; Ultrasonics