OBJECTIVETo analyze HOXD13 gene in polydactyly in dispersion type of Fujian Han population in order to know whether there is mutation in HOXD13.

METHODSAll members were evaluated physically and radlologically. Genomic DNA was extracted from peripheral blood of the patients who were treated from Dec. 2012 to Apr. 2013, their parents, grandparents, and normal volunteers from our department. The polymerase chain reaction ( PCR) , agarose gel electrophoresis and DNA sequence analysis were adopted to analyze HOXD13 from six cases with polydactyly and forty normal volunteers.

RESULTSAll patients had no family history. A heterozygous synonymous mutation, c. 291 C > T( p. A60A), was detected in exon 1 of the HOXD13 Gene in five of the polydactyly patients. Similar mutation was not detected in one brachy dactyly patient and the forty normal volunteers.

CONCLUSIONA heterozygous synonymous mutation, c.291C > T (p. A60A), of the HOXD13 gene may be related with polydactyly in dispersion type of Chinese han population.

China ; Exons ; Heterozygote ; Homeodomain Proteins ; genetics ; Humans ; Mutation ; Polydactyly ; genetics ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Transcription Factors ; genetics

OBJECTIVETo investigate the application of medpor and split-thickness skin graft in formation of cranioauricular sulcus during auricular reconstruction with Nagata method.

METHODSThe first stage operation was fulfilled according to the Nagata two-stage method which involves fabrication and grafting of the costal cartilage framework. The second-stage ear elevation operation was undertaken 6 months later to form the cranioauricular sulcus. Split-thickness skin was taken from temporal and accipital area. After releasing the auricular framework and transplanting C shaped medpor at the rear side of framework, the temporaparietal fascia flap was transferred to cover postauricular medpor and framework. Then the split-thickness skin graft was implant on the fascia surface.

RESULTSFrom July 2010 to August 2012, 20 cases (22 ears) were treated. Partial necrosis of temporaparietal fascia flap and framework exposure happened in 1 case. Successful ear reconstruction was achieved in other cases with satisfactory cranioauricular sulcus during the follow-up period of 6-18 months (average, 13 months).

CONCLUSIONSThe application of medpor and split-thickness skin graft in the ear elevation of Nagata method for auricular reconstruction for microtia can achieve satisfactory results. It not only avoids the obvious scar in the donor site due to harvesting full-thickness and intermediate-thickness skin, but also reduces chest trauma due to harvesting costal cartilage.

Costal Cartilage ; transplantation ; Dermatologic Surgical Procedures ; methods ; Ear Auricle ; surgery ; Fascia ; Humans ; Polyethylenes ; therapeutic use ; Skin Transplantation ; Surgical Flaps ; transplantation

BACKGROUND: Female hypertension has its own epidemicologic character and the chief interventions on it are various.OBJECTIVE: To investigate the risk factors of female hypertension and observe the effects on rehabilitative and preventive intervention in demonstrative community for comprehensive prevention and treatment of cardiac cerebral vascular disease in Guizhou.DESIGN: Group randomization was designed. The samples of certain percentage were randomized according to total population from each village of 13 administrative areas.SETTING: Guizhou Institute of Cardiovascular Disease, Renmin Hospital of Yunyan District in Guiyang, Guizhou Clinical Examination Center.PARTICIPANTS: Since 1996, a series of comprehensive prevention and treatment had been carried in the communities for cardiac cerebral vascular disease in Guizhou, involved 13 administrative areas and 112 villagecitizen groups, in which, 26 604 people were employed, living in the regions between town and country. Social natural condition and life behavior of majority citizen reflected the common state of people in town and country. Totally 3 934 people aged over 15 years were investigated in the communities, and were all in the known of investigation. The samples without complete data were excluded.METHODS: ① Base-line investigation was carried on for the groups over 15 years old according to the requirement for administrative region designed by Institute of Preventive Medicine of China Academy of Sciences from April 1st 2001 to May 15th . ② Health education and health promotion activity were carried on for the included groups. ③ Survey after intervention was given for females according to the survey items designed by Institute of Preventive Medicine of China Academy of Sciences from July 2002to June 2003. ④ Normal body-mass index (BMI) was 18.5-23.9 kg/m2,overweight was indicated if BMI was 24-27.9 kg/m2 and obesity was diagnosed if BMI ≥28 kg/m2. ⑤ Analysis was applied on comparison of BMI,waist to hip ratio (WHR), average blood pressure, the rates of incidence,awareness and treatment of hypertension and rate of high-salty and lipid diet. ⑥ t test was adopted for comparison of means between two samples and x2 test was used for rate comparison.MAIN OUTCOME MEASURES: ① Comparison of the rates of incidence, awareness, treatment and control of hypertension for females of different ages in community base-line investigation in Guizhou. ② Comparison of BMI, WHR and BP of females of various ages in baseline investigation.③ Comparison of incident rate of hypertension for females with various BMI in baseline investigation. ④ Comparison of BMI, WHR, BP, smoke, alcohol, rate of high-salty and lipid diet, the rates of incidence, awareness,treatment and control of hypertension for females between baseline investigation and post-intervention survey.RESULTS: In baseline investigation, 6 361 correct and complete forms were collected, with 99.84% qualified rate, of which, there were 3 934females. 1 141 data were qualified after intervention. It was indicated in community baseline investigation: ① Rates of incidence, awareness and treatment of hypertension for females were improved with increased age (P ＜ 0.05), and the control rate was decreased with increased age (P ＜ 0.05). ② BMI, WHR, SBP (systolic blood pressure) and DBP (diastolic blood pressure) and PP (pulse pressure) were improved significantly with in creased age (P ＜ 0.01). BMI for females was increased with ages, but was declined with age ≥60 years. ③ The incident rates of hypertension for groups of normal body mass, overweight and obesity were 15.05%, 23.87% and 39.37% successively, indicating that the hypertension inci dent rate was increased significantly with improved BMI (paired compari son, P ＜ 0.05). Comparison between post-intervention survey and base-line investigation: ① In the comparison, the results of BMI, WHR and BP means were reduced for most cases at same age and significant difference was displayed in majority (P ＜ 0.05). ② After intervention, smoke rate of females was increased significantly and rate of high-salty and lipid diet was decreased (P ＜ 0.05). ③ Incident rate after health intervention was decreased significantly compared with that before intervention (P ＜ 0.05),and the rates of awareness, treatment and control of hypertension were enhanced significantly (P ＜ 0.05).CONCLUSION: ① The rates of incidence, awareness, treatment and control of female hypertension are different in ages in community of Guizhou. ② The severity of risk factor of female hypertension is enhanced with increased age in community of Guizhou. ③ The increased body mass is the important factor of incident rate of hypertension. ④ Health education probably decreases the severity of risk factor of hypertension and increases the rates of awareness, treatment and control.

OBJECTIVE To understand and use reasonably the strategy of prevention and management of overwhelming postsplenectomy infection(OPSI). METHODS According to intervention to patients with postsplenectomy by means of education,vaccination,antibotic prophylaxis after April 1998,clinical and follow-up data were reviewed and analyzed from 337 cases patients with traumatic splenectomy from Jan 1992 to Jan 2004,and correlative factors of four OPSI cases were further analyzed. RESULTS Incidence of OPSI descended obviously after intervention(P

This study was aimed to investigate the distribution and implication of tap1 (transporter associated with antigen processing) and tap2 loci allelic and genotypic frequencies. The distribution of tap1 and tap2 loci allelic and genotypic frequencies in 339 random samples of healthy Chinese Hans was analyzed by TaqMan PCR. Several genetic information about power of discrimination, cumulative DP, polymorphism information content, expected heterozygosity and observed heterozygosity were calculated. The results indicated that 5 tap1 alleles (tap1*0101, 020101, 020102, 0301 and 0401) and 4 tap2 alleles (tap2*0101, 0102, 0103 and 0201) were detected in all samples. 8 tap1 genotypes were found which account for 53.3% of the theoretic genotype and 6 tap2 genotypes were found which account for 60% of the theoretic genotype. The genotyping results of tap1 and tap2 both conform to the Hardy-Weinberg expectations (p > 0.05). Tap1*0101 (79.79%) and tap2*0101 (82.74%) are the most common alleles in Chinese Hans. It is concluded that tap1*0101 and tap2*0101 are most common alleles in Chinese Hans, tap1 and tap2 loci carry some power of individual discrimination and polymorphism information content. These two locl can be used for the research in the fields of human genetics, linkage analysis of genetic disease genes, paternity test and individual identification and so on.
ATP-Binding Cassette Sub-Family B Member 2 ; ATP-Binding Cassette Transporters ; genetics ; ATP-Binding Cassette, Sub-Family B, Member 3 ; Alleles ; Asian Continental Ancestry Group ; genetics ; Gene Frequency ; Genotype ; Haplotypes ; Humans

Objective To develop and optimize a module for the automatic production of N-succinimidyl-4-[18F] fluorobenzoate (18F-SFB) that is used for further 18F labelling C2A domain of Synaptotagmin Ⅰ . The conjugated compound was applied for detecting the tumor apoptosis in rabbit model after chemotherapy. Methods GE TRACERlab and TRACERlab FXF-N modules were modified and programmed to automatically produce 18 F-SFB which was further analyzed by high performance liquid chromatography (HPLC).C2A-glutathione S transferase (GST) was conjugated with 18F-SFB (18F-FB-C2A-GST) and subsequently purified by HPLC. Two rabbits grafted with VX2 lung cancer were first treated with chemotherapy and then,37 MBq of 18F-FB-C2A-GST was administered via the auricular vein. Serial PET/CT imagings were performed at 0.5, 1 and 2 h post-injection respectively. Tumor apoptosis was examined by pathological study. Results The TRACERlab FXFoG and TRACERlab FXF-N modules were successfully adapted to synthesize18F-SFB, with the radiochenmical yield (76.41 ±4.00)% (n = 10), the corrected yield (45.43 ±5.90 ) % and the radiochemical purity about 95%. The whole procedure for labeling 18 F-SFB was about 87 min.From PET/CT imagings, significant uptake was found in the tumor after chemotherapy, but no obvious up-take was found in heart, lungs and liver. HE staining demonstrated large number of apoptotic bodies within the tumor tissues. Conclusions 18 F-SFB can be automatically synthesized. 18F-FB-C2A-GST might be useful for the detection of apoptosis in tumor after chemotherapy.

Objective To investigate the efficiency of Trichostatin A (TSA) in inducing cell apoptosis and altering the Notch pathway genes expression in PANC-1 cells line.Methods The survival rate and apoptosis of PANC-1 cells were measured by MTT assay and Hoechst 33258 staining,respectively.mRNA expression levels of the genes,numb,gcn512,dll3,hes6,eaf2,cytohesins,in PANC-1 cells were assessed by real-time quantitive PCR.Western blot was used to measure the expression of bcl-2,bax,actived caspase-3 and NICD protein which was the biologically active form of Notch-1.Results After culturing with 0.1,0.2,and 0.4 μmol/L TSA for 24 hours,the cellular survival rate of PANC-1 cells significantly decreased to 72％,58％ and 39％,respectively.The survival rate of PANC-1 was negatively correlated to time length of culture with TSA.Increased apoptosis of PANC-1 cells after 12,24 and 36 h culture with TSA was detected by Hoechst 33258 staining.Western blotting showed that the expression of bax,actived caspase-3 and NICD protein increased while the bcl-2 protein decreased after culture with TSA.In real time quantitive PCR assessment,the mRNA expression of numb and hes6 in PANC-1 cells were upregulated by TSA (P ＜ 0.05),while the mRNA expression of gcn512 and dll3 were down-regulated by TSA (P ＜ 0.05).While mRNA expressions of eaf2 and cytohesin1,2,3,4 were not affected by TSA.Conclusions TSA induces apoptosis of pancreatic cancer cell line PANC-1.The Notch signal pathway may be involved in inducing cellular apoptosis of PANC-1 when cultured with TSA.

Objective To investigate the magnetic resonance imaging(MRI) in the diagnosis of congenital anorectal malformation.Methods Fourteen patients with congenital anorectal malformation received pelvic and sacrococcygeal MRI scan with 5 normal controls.The morphological changes of puborectalis and anal sphincter,and the abnormalities of anus,rectum,sacral vertebra and genitourinary system were observed.Results The best developed puborectalis and anal sphincter were showed in 13 cases,the better developed in 3 cases,the least developed in 3 cases,respectively.There were 7 cases with abnormalities of sacral vertebra and 5 cases with abnormalities of genitourinary system.Conclusion MRI examination plays an important role in the diagnosis of congenital anorectal malformation.The morphological changes of puborectalis and anal sphincter,and the abnormalities of sacral vertebra and genitourinary system can be determined by the MRI examination, which is important in clinical therapy planning and accessing the curative effect.

OBJECTIVETo investigate the correlation of neurochemical metabolism in hippocampus with memory function in young adult patients with first-episode depression.

METHODSTwenty patients with first-episode depression (patient group) and fifteen health subjects (control group) were enrolled in the study. The neurochemical metabolism, including the levels of N-acetylaspartate (NAA), Choline (Cho), Creatine (Cr), Myoinositol (mI) were measured by proton magnetic resonance spectroscope (1H-MRS) in bilateral hippocampus. Wechsler Memory Scale (WMS) were used to examine the memory function in both groups.

RESULTSThe memory quotient (89.15 ±6.62) of patient group was significantly lower than that of controls (P <0.01),the scores of long-term memory,short-term memory and immediate memory in patients were also lower than those of controls (P<0.05 or 0.01). In patient group, the ratio of NAA/Cr (1.34 ±0.08) in the left hippocampus was significantly lower than that of control group (P<0.01); and the ratio of mI/Cr in the bilateral hippocampus [(0.63 ±0.13) in left and (0.6 ±0.1) in right] was significantly higher than those in control group (P<0.05). In patient group,the ratio of NAA/Cr in the left hippocampus was positively correlated with WMS scores (P<0.01), and the ratio of mI/Cr in the left hippocampus was negatively correlated with WMS scores (P<0.05).

CONCLUSIONThe memory deficit and abnormal metabolism function of neuron cell in hippocampus coexist in young adult patients with first-episode depression, and the lower NAA/Cr and higher mI/Cr ratio in the left hippocampus may result in the memory deficit.

Adolescent ; Adult ; Aspartic Acid ; analogs & derivatives ; metabolism ; Case-Control Studies ; Creatine ; metabolism ; Depressive Disorder ; metabolism ; physiopathology ; Female ; Hippocampus ; metabolism ; Humans ; Inositol ; metabolism ; Magnetic Resonance Spectroscopy ; Male ; Memory ; Neuropsychological Tests ; Young Adult

OBJECTIVETo observe the protective effect of diammonium glycyrrhizinate on hepatic function in burn patients.

METHODSTwenty burn patients with hepatic dysfunction were enrolled in the study and were randomly divided into 2 groups, i. e. treatment (T, n = 10, with conventional treatment and intravenous infusion of 150 mg diammonium glycyrrhizinate per day for 14 days), and control (C, n = 10, with conventional treatment) groups. The blood samples in both groups were collected before and 7 and 15 days after the treatment. The serum contents of ALT, AST, GGT, ALP and PA in the blood samples were determined and analyzed comparatively.

RESULTSThere was obvious difference in the serum contents of ALT, AST, GGT, ALP and PA in the T group before treatment (168 +/- 46 U/L, 104 +/- 29 U/L, 162 +/- 37 U/L, 149 +/- 17 U/L, 310 +/- 35 mg/L, respectively) and 15 days after treatment (51 +/- 9 U/L, 31 +/- 3 U/L, 56 +/- 10 U/L, 103 +/- 9 U/L, 372 +/- 44 mg/L, respectively, P < 0.05). There was no difference in these indices in the C group before and after treatment (P > 0.05).

CONCLUSIONDiammonium glycyrrhizinate seemed to be beneficial to the management of postburn hepatic dysfunction with obvious rapid depression of hepatic enzymes.

Adult ; Alanine Transaminase ; blood ; Aspartate Aminotransferases ; blood ; Burns ; blood ; drug therapy ; physiopathology ; Female ; Glycyrrhizic Acid ; therapeutic use ; Humans ; Liver ; physiopathology ; Liver Diseases ; drug therapy ; Liver Function Tests ; Male ; Middle Aged