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.

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.

Objeetive To explore the effect of individual audio-visual distraction intervention in relieving the psychological stress of patients received hemorrhoid operation.Methods 100 patients who were scheduled to undergo the hemorrhoid operation were randomly divided into the experimental group and the control group,including 50 cases in each group.Patients in the control group accepted the routine nursing during the operation.Patients in the experimental group received the routine nursing and individual audiovisual distraction,which included playing the favorite video and music in order to distract attention.The indexes including vital signs and anxiety degree during the operation were observed and recorded before,during and after the operation.Then the results were statistically analyzed.Results The two groups had anxiety at different degrees before the operation.After receiving the individual audio and visual distraction,the anxiety degree of the experimental group was obviously relieved.The anxiety scores were(36.16±3.36)and(41.98±2.35)in the experimental group and the control group,respectively,after the difierent intervention measures.The vital sign was steady in the experimental group,having a statistical meaning compared to the control group(P<0.05).Conclusions The patients cau recognize and deal with the psychological stress through the individual audiovisual distraction during the hemorrhoid operation.Audiovisual distraction can obviously decrease the side effect of operation too.It is an important nursing intervention to ensure the successful operation.

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

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

Purpose:In order to investigate the effects of repair of arteriovenous fistula on heart function soas to widen the range of the indication of allogenetic transplantation of kidney. Methods :Repair of arteriovenousfistula was performed in 8 patients who have received long term hemodialysis and then complicated with repeatedattack of heart failure 5 months before renal transplantation. Results:There are 7 patients had their cardiac cham-bers returned to normal, and 1 returned to normal upper limit. Renal transplantation was successfully performedin 6 patients, but death occurred in 1 case resulting from liver function failure. Superacute rejection and sponta-neous rupture of the kidney occurred in 1 patient. Conclusions:It is considered that the repair of arteriovenous fis-tula before renal transplantation is beneficial to improvement of heart function in these patients so as to widen therange of operative indications and create favourable condition for renal transplantation and decrease complica-tions. Color doppler sonography is of great value in monitoring pre-and postoperative heart function.

OBJECTIVETo investigate the clinicopathologic and prognostic implications of phosphoinositide 3 kinase (PI3K)/AKT pathway alterations in endometrial cancers of Chinese women.

METHODSThe expression of PTEN, p-AKT, and ER/PR was assessed in 71 cases of endometrial carcinoma by immunohistochemistry (EnVision method). The PIK3CA mutation at exon 9 and exon 20 was analyzed by PCR and direct sequencing in 34 tumors.

RESULTS(1) Of the 71 cases of endometrial carcinoma, 65 cases were endometrioid adenocarcinoma (EEC) and 6 cases were nonendometrioid adenocarcinoma (NEEC). PTEN loss of expression was found in 63.4% (45/71) of tumors, and more commonly occurred in EEC (66.2%, 43/65) than that in NEEC (2/6, P = 0.18). Patients with PTEN loss in their tumors (45 cases) had a better survival than those without (26 cases, P = 0.07). In ER negative subgroup, the patients with PTEN loss of expression (12 cases) had longer survival than those with normal PTEN expression (7 cases; P = 0.04). (2) The frequency of PIK3CA mutation was 41.2% (14/34) with a hot mutation spot at T544 in exon 9. PIK3CA mutations more commonly occurred in EEC (44.8%, 13/29) than in NEEC (1/5, P > 0.05). The mutations at exon 9 more commonly occurred in EEC, well- and moderately-differentiated EEC, and tumors at early stage (P > 0.05). On the contrary, in tumors at early stages, the frequency of mutations in exon 20 (14.3%, 4/28) was significantly lower than that at late stages (4/6, P = 0.01). (3) p-AKT was positive in 59.2% (42/71) of tumors that were more frequently found in EEC (60.0%, 39/65) than that in NEEC (3/6, P = 0.68). However, the significant difference of p-AKT expression was found between well- and moderately-differentiated EEC (75.0%, 21/28; 53.6%, 15/28) and poorly-differentiated EEC (3/9, P = 0.02). Moreover, p-AKT expression was significantly correlated with positive ER (r = 0.339, P = 0.00).

CONCLUSIONSEndometrial carcinoma patients with loss of PTEN and p-AKT positivity have a favorable prognosis. PIK3CA mutations at exon 9 or 20 may have different impact on the prognosis. The function of PTEN loss and p-AKT expression may vary according to different hormone status.

Adult ; Aged ; Carcinoma, Endometrioid ; genetics ; metabolism ; pathology ; surgery ; Class I Phosphatidylinositol 3-Kinases ; Endometrial Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Exons ; Female ; Follow-Up Studies ; Humans ; Hysterectomy ; Middle Aged ; Mutation ; Neoplasm Invasiveness ; Neoplasm Staging ; PTEN Phosphohydrolase ; metabolism ; Phosphatidylinositol 3-Kinases ; genetics ; metabolism ; Phosphorylation ; Proto-Oncogene Proteins c-akt ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Signal Transduction ; Survival Rate

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