Objective To explore the fixation method of tibial helical plate for treatment of proximal and middle one-third of humeral fractures and evaluate the clinical outcome. Methods A review was performed on 15 patients with proximal and middle one-third of humeral fractures treated by tibial helical plate from May 2004 to February 2009. There were 10 males and five females, at age range of 19-65 years ( average 38.0 years). The surgical method was summarized and the shoulder function evaluated.Results The follow-up lasted for 7-24 months (mean 13 months) , which showed bony union in all patients, with mean union time of 4.7 months. There was no implant loosening or failure. According to Neer 's criteria, the result was excellent in seven patients and good in six, with excellence rate of 86.7%.Conclusions Open reduction and internal fixation using tibial helical plate is simple and effective for treatment of proximal and middle one-third of humeral fractures.

Objective To explore the effect of Valpar occupational assessment training system on cognitive dysfunction in schizophrenia. Methods Sixty patients with schizophrenia were randomly assigned into Valpar therapy group ( experiment group, n=30) and traditional rehabilitation therapy group ( control group, n=30) according to the order number. The duration of the treatment was six weeks. The brief assess?ment of cognition in schizophrenia ( BACS) and Wisconsin card sorting test ( WCST) were conducted as pre?and post?treatment assessment. Results There were significant differences between scores of BASC in pre?and post?treatment assessment in experiment group. More specifically, the BASC scores in symbol coding (37.50±6.50, t=-4.60, P<0.01),token movement(60.80±8.72, t=-2.54, P=0.017),verbal memory (44.40±11.29, t=-2.19, P=0.037)),and word fluency(14.23±4.35, t=-3.39, P=0.002) were signifi?cantly different when comparing pre?and post?treatment assessment outcomes. In control group,the only sig?nificant difference was found in word fluency (14.23±4.35, t=-3.39, P=0.002).In addition,response errors (57.80±10.35, t=-3.06, P=0.005) and repeat errors (34.67±6.96, t=3.41, P=0.002) in WCST in exper?iment group were significantly different in pre?and post?treatment assessment while only repeat errors (34.30 ±7.01, t=4.36, P=0.000) was different in control group. It was further discovered that scores in in symbol cod?ing( t=2.010, P=0.048),token movement ( t=2.124, P=0.038),response errors ( t=2.413, P=0.020) and repeat errors( t=2.009, P=0.047) in WCST were different between two groups. Conclusion Valpar professional evaluation train?ing system can significantly improve the cognitive function of people with schizophrenia.

Objective To investigate the variations of intestinal flora of common carp in patients with hyperuricemia in Qingdao District.Methods The fecal flora was analyzed by gradient dilution method.The levels of uric acid in blood and feces were detected by enzyme colorimetry method and phosphortungstic acid method,respectively.Results E.coli (7.58 ± 0.34,P ＜ 0.05),the total count of aerobian (7.76 ± 0.67,P ＜ 0.05),and bacteroides (2.75 ± 0.31,P ＜ 0.05) were significantly increased in hyperuricemia patients compared to controls.Bifidobacterium (5.38 ± 0.34,P ＜ 0.05) and lactobacillus (2.69 ± 1.48,P ＜ 0.05) were sig-nificantly decreased compared to controls.Concentrations of uric acid in blood and feces were both significantly higher in the patients relative to healthy controls.Decomposition capability was similar to healthy controls.Decomposition capability of uric acid revealed a close correlation with bifidobacterium and lactobacillus,respectively (r =0.565,0.328,P ＜ 0.05).Conclusions Intestinal dysbacteriosis was found by the analysis of fecal flora in patient with hyperuricemia in Qingdao district.Dysbacteriosis might participate in the process of hyperuricemia onset.

Objective Calcium-sensing receptor(CaSR)belongs to the family C of G-protein coupled receptors.This study was carried out to observe the influence and mechanism of CaSR on anoxia/reoxygenation(A/R)-induced cardiomyocytes apoptosis.Methods The model of A/R injury was established through anoxia for 2 hours and reoxygenation for 24 hours in cultured cardiomyocytes of neonatal rats.Cardiomyocytes were randomly divided into three groups:control group,A/R group and GdCl3 group(300μmol/L GdCl3 was added to the culture medium at the beginning of reoxygenation).Apoptosis of cardiomyocytes was assessed by 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide(MTT)and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling(TUNEL).The expression of CaSR,cysteine-requiring aspartate protease(caspase)-3,9 and cytochrom c (Cytc)were analyzed by Western blot.Results The TUNEL showed that cardiomyocytes apoptosis was 17%±3% in A/R group,and was higher than that in the control group.At the same time,expression of CaSR in A/R group was markedly increased in response to control group.Compared with A/R group,GdCl3,a specific activator of CaSR,further enhanced cardiomyocytes apoptosis to (28±4)% and decreased the ability of cardiomyocytes to (51.2±6.8)%,along with an increment in CaSR,caspase-3,caspase-9 and Cytc expressions.Conclusion CaSR is involved in anoxia/reoxygenation-induced apoptosis of neonatal rat cardiomyocytes through Cytc-caspase-3 pathway.

Objective To explore the therapeutic mechanism of in response to kainic acid－induced epilepsy in mice. Methods Sixty mice Were randomly divided into control group,model group and loW－dose Sirolimus group, medium－dose and high－dose Sirolimus groups. Prevention and therapeutic administration Were used in the Sirolimus loW,medium and high dose groups. One Week before model establishment,intraperitoneal injection of Sirolimus 1 mg／kg,3 mg／kg and 9 mg／kg Were given once a day,but the model group and the control group Were injected intra﹣peritoneally the same dose of 9 g／L saline. One Week after the preventive administration,all mice except the control group,Were intraperitoneally injected 30 mg／kg kainate solution,and the control group Was injected an equal dose of 9 g／L saline. Mice Were treated 1 Week after the establishment of the models. The number of mice With epileptic symp﹣toms and the number of epileptic seizures,the seizure time and the average number of episodes Were recorded,the Mor﹣ris Water maze test Was performed on the mice,and the arrival time,sWimming distance and number of crossing times of the mice Were collected. The expression levels of mTOR pathWay－related protein gene and the number of apoptotic cells in hippocampus Were detected in hippocampus of mice. Results Epilepsy symptoms appeared earlier in the model group after modeling,and the epileptoid－like symptoms Were significantly delayed in each group(P﹦0. 001 9). The epilepsy grading model group Was significantly higher than that of other groups. The mouse seizure time on the 6th day after modeling Was significantly higher than that on the 3rd day after modeling. The time required for the model epileptic mouse to reach the platform and the sWimming length Was significantly more than that of the control group( P ﹦0. 000 1),While the number of the mice traversing the platform Was significantly loWer(P﹦0. 000 2),and the admi﹣nistration group Was significantly relieved. The gene expression levels of mTOR pathWay key proteins mTOR and S6 in the hippocampus of mice in the model group Were significantly up－regulated(P﹦0. 000 1). Simultaneously,different doses of Sirolimus could significantly doWn － regulate PI3K,AKT,mTOR,and S6 gene expression levels( P ﹦0. 000 1). Compared With the control group,the gray ratios of p－PI3K,p－AKT,p－mTOR and p－S6 and normal PI3K,AKT,mTOR and S6 protein in the model group Were significantly higher(P﹦0. 000 1),and Sirolimus Was also observed. It Was significantly doWn－regulated after administration(P﹦0. 000 1). Conclusions Sirolimus can signifi﹣cantly inhibit the over－activation of mTOR signaling pathWay in the hippocampal region of kainic acid－induced epi﹣lepsy mice,thereby alleviating the symptoms of epilepsy in mice and increasing learning and memory.

Objective To investigate the mutations of pedocyte molecules in patients with late onset familial focal segmental glomerular sclerosis (FSGS). Methods Thirty-one pedigrees of late onset familial FSGS in Department of Nephrology, Shanghai Ruijin Hospital from Sep 1997 to Oct 2007 were enrolled in this study. The diagnosis standard of familial FSGS was as follows:(1) the age of presentation was more than 12 years old. (2) in one pedigree, two or more individuals were proven as FSGS by renal biopsy, or at least one was proven to be FSGS by renal biopsy, the others presented renal insufficiency or pmteinuria without precise causes. One hundred unrelated healthy people were screened as control group. Genomic DNA extracted from peripheral blood cells were amplified by PCR and then sequenced for mutations of NPHS2, ACTN4 and TRPC6. Results A novel missense heterozygotic mutation L316P of ACTN4 was identified inone pedigree. The mean onset age of the affected members of this pedigree was (38.7±7.4) years old and their kidney injury progress was slow. Proteinuria of the proband's brother was not improved by immunosuppressor. All 3 affected members of this family had such heterozygotic mutation. A novel missense heterozygotic mutation Q889K of TRPC6 was found in another pedigree. The mean onset age of the affected members in this pedigree was (38.0±4.2) years old. Three members presenting renal disease in this family all had such heterozygotic mutation but with different clinical manifestations. A quiescent mutation G467G of TRPC6 was also identified. Above variants were not found in healthy controls. No NPHS2 mutation was found to cause familial FSGS in these pedigrees. Conclusions A novel mutation L316P of ACTN4 and a new mutation Q889K of TRPC6 are identified in Chinese patients of late onset familial FSGS. No NPHS2 mutation is found to induce FSGS in these pedigrees.

This research aimed to study the effect of distillage recycling on ethanol fermentation, the key glycolytic enzymes and cell composition of the self-flocculating yeast. With the self-flocculating yeast SPSC01 and medium composed of 220 g/L glucose, 8 g/L yeast extract and 6 g/L peptone, continuous ethanol fermentation was carried out at the dilution rate of 0.04 h(-1) with a 1.5 L tank bioreactor. Fermentation broth was collected every 3 days, and ethanol and other volatile byproducts were removed by distillation, but the stillage with high boiling byproducts was recycled to prepare the medium instead of fresh water. The system was run for 20 days, during which ethanol and biomass concentrations in the effluent decreased continuously, indicating the significant inhibition of the high boiling byproducts accumulated within the system. Thus, the activities of the key enzymes of the glycolytic pathway: hexokinase, 6-phosphofructose kinase, and pyruvate kinase were analyzed, and it was observed that all of them were inhibited. Furthermore, the biosynthesis of the stress response metabolites glycerol and trehalose was investigated, and it was found that glycerol production that can protect yeast cells against osmotic pressure stress was enhanced, but trehalose biosynthesis that can protect yeast cells against ethanol inhibition was not improved, correspondingly. And in the meantime, the biosynthesis of the major intracellular components proteins and hydrocarbons was adjusted, correspondingly.
Bioreactors ; microbiology ; Ethanol ; metabolism ; Fermentation ; Flocculation ; Glycerol ; metabolism ; Glycolysis ; Hexokinase ; metabolism ; Industrial Microbiology ; methods ; Phosphofructokinase-1 ; metabolism ; Saccharomyces cerevisiae ; enzymology ; genetics ; metabolism ; Schizosaccharomyces ; enzymology ; genetics ; metabolism ; Trehalose ; metabolism ; Triticum ; metabolism ; Zea mays ; metabolism

OBJECTIVE: To explore the clinical characteristics of a child with early-onset infantile epileptic encephalopathy type 8 associated with synonymous variant of ARHGEF9 gene. METHODS: Clinical data of the patient was summarized. The child and his parents were subjected to trio-whole exome sequencing. RESULTS: The child has presented with global developmental delay, epilepsy, impulsive behavior, hypersensitivity to sound, and mental retardation. He was found to harbor a de novo synonymous variant c.741C>T (p.Cys247Cys) of the ARHGEF9 gene. RNA splicing analysis confirmed that the variant has led to abnormal splicing of exon 5, resulting in a 55-bp deletion. CONCLUSION The clinical features of ARHGEF9 gene-related early-onset infantile epileptic encephalopathy type 8 includes mental and motor developmental delay, epilepsy, auditory allergy, and hyperactivity impulsivity. For synonymous variant, in vitro study and transcriptional experiment may be carried out to evaluate its functional and splicing effect. Above finding has enriched the phenotypic and genotypic spectrum of the ARHGEF9 gene.
Child ; Epilepsy/genetics* ; Exons ; Humans ; Infant ; Intellectual Disability/genetics* ; Male ; Rho Guanine Nucleotide Exchange Factors/genetics* ; Spasms, Infantile/genetics*

Objective To study the value of platelet parameters within the first week of life in predicting drug intervention failure of haemodynamically significant patent ductus arteriosus ( hsPDA ) in preterm infants.Method The preterm infants admitted to NICU of the Affiliated Xuzhou Hospital to the Southeast University from Nov 2010 to Jul 2016 were studied.All preterm infants with hsPDA were treated with ibuprofen or acetaminophen , and were assigned into the success group and the failure group .The following data were retrospectively collected: platelet parameters included platelet counts , plateletocrit , platelet distribution width , mean platelet volume , and platelet-large cell ratio in blood cell analysis of venous blood in the first 24 hours and the 4~7 days of life.Echocardiography was done 72 hours after the usage of ibuprofen or acetaminophen treatment .Result There were 107 preterm infants with hsPDA in our study , 76 infants in the success group and 31 infants in the failure group.Among the platelet parameters in the first 24 hours and the 4~7 days of life, there were significant difference only in the plateletocrit in the 4~7 days after birth between the success group and the failure group ( 0.21%±0.13% vs.0.15%±0.07%, P=0.024).The smaller birth weight , the respiratory distress syndrome , and the smaller plateletocrit in the 4~7 days of life were the independent risk factors for the drug intervention failure of hsPDA in preterm infants .The area under the receiver operating characteristic curves of the plateletocrit in the 4 ~7 days of life for predicting the drug intervention failure of hsPDA in preterm infants was 0.630 (95%CI 0.502~0.757, P=0.036).The best prediction cutoff value of the plateletocrit in the 4~7 days of life was 0.125%(sensitivity was 35.5%, specificity was 92.1%) .Conclusion The smaller birth weight , with respiratory distress syndrome, and the smaller plateletocrit in the 4~7 days of life were the independent risk factors of the drug intervention failure of hsPDA in preterm infants .The value of the plateletocrit in the 4 ~7 days of life in predicting the drug intervention failure of hsPDA in preterm infants was lower .

OBJECTIVE: To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS). METHODS: Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing. RESULTS: Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons. CONCLUSION The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
DNA Copy Number Variations ; Facies ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics* ; Zinc Finger E-box Binding Homeobox 2/genetics*