Objective To investigate the effect of Helicobacter pylori ( Hp) infection on the growth and nutritional status in children.Methods A total of 174 children with Hp infections were collected from Jinhua Hospital of Zhejiang University during March 2010 to September 2012, and 100 healthy children were also enrolled as the controls.The differences in age and gender between Hp-infected group and control group were not significant.All Hp-infected children were given first-line anti-Hp therapy and followed-up for two years.t test, repeated measure ANOVA and LSD test were used to analyze the growth and nutritional status between Hp infected children and healthy controls, as well as between HP-infection eradication group and relapse group.Results Among 174 Hp-infected children, 2 were diagnosed as true precocious puberty, 6 abandoned treatment and 8 were lost to follow-up.Among 158 children who completed the study, Hp infection was eradicated in 128 (eradication group), and relapsed in 30 (relapse group).The height, weight, peripheral levels of hematoglobin ( Hb) , Albumin ( Alb) , blood urea nitrogen ( BUN) , Fe and Zn in 158 Hp-infected children at the baseline were significantly lower than those in the healthy control group (t=2.674, 1.657, 12.709, 3.662, 4.227, 4.210 and 14.820, all P <0.05).The height, weight, peripheral levels of Hb, Alb, BUN, Fe and Zn in eradication group were increased in 1-and 2-year of the follow-up (F=8.350, 14.998, 50.875, 37.584, 22.701, 8.295 and 41.791, all P<0.01), while there were no significant increase in the levels of Hb, Alb, BUN and Fe in the relapse group (F=1.826, 1.659, 2.613 and 2.495, all P>0.05).In the second year of the follow-up, the increases of Alb, BUN, Fe and Zn in eradication group were significantly higher than those in the relapse group ( t=7.86, 5.17, 8.80, 5.92, 2.17 and 7.28, all P <0.05).Conclusion Hp infection may affect the growth and nutritional status of children, and the eradication of Hp infection may help to improve the development and nutritional status of the children.

Objective To study the effect of Botulinum toxin type A (BTX-A) on lower limbs spasticity after stroke. Methods 109 convalescent patients after stroke were randomly divided into treatment group and the control group. All the patients accepted routine treatment and rehabilitation, the treatment group accepted BTX-A injected in spastic muscles in addition. They were assessed with Fugl-Meyer assessment (FMA), modified Ashworth scale (MAS), Berg Balance Scale (BBS) before, 4 weeks and 12 weeks after treatment. Results The scores of MAS, BBS and FMA improved more in the treatment group than in the control group (P<0.05) after treatment. Conclusion Combination of local BTX-A injection can significantly release the lower limbs spasticity, and improve the motor and balance ability for patients after stroke.

OBJECTIVE: To explore the genetic basis for a pedigree affected with KBG syndrome. METHODS: Clinical data of three patients from the pedigree (the proband, his mother and sister) was collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing (WES). Suspected variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous c.4398_4401del (p.Glu1467AsnfsTer63) frameshift variant of the ANKRD11 gene by WES. Sanger sequencing confirmed that the same variant was also present in his mother and sister, but not in his father. CONCLUSION The c.4398_4401de (p.Glu1467AsnfsTer63) variation of the ANKRD11 gene probably underlies the KBG syndrome in this pedigree.

OBJECTIVE: To explore the genetic basis for a patient featuring Rotor syndrome. METHODS: Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR. RESULTS: WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript. CONCLUSION The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.
Exons/genetics* ; Homozygote ; Humans ; Hyperbilirubinemia, Hereditary ; Introns/genetics* ; Liver-Specific Organic Anion Transporter 1 ; Male ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic etiology of a child with microcephaly-cortical blind syndrome. METHODS: Clinical data of the child was collected. The child and her parents were subjected to whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene. CONCLUSION The compound heterozygous variation c.1051C>T (p.R351X) and c.609delA (p.E203Efs*19) of the DIAPH1 gene probably underlay the microcephaly-cortical blindness syndrome in this child.
Blindness/genetics* ; Child ; Female ; Formins/genetics* ; Genetic Testing ; Humans ; Microcephaly/genetics* ; Mutation ; Pedigree ; Exome Sequencing

BACKGROUND AND OBJECTIVEThe p53 as a transcription factor in cell stress was activated to regulate cell cycle and programmed cell death to inhibit tumor growth. Usually, p53 is kept in non-activated state through various mechanisms, including the action of p53 C-terminal negative regulatory sequences. The purpose of the study is to prepare the two types p53 recombinant adenoviruses that carry full-length p53 as well as deletion of negative regulatory sequences at p53 C-terminus and to detect exogenous GFP expression in human lung cancer cell infected-virus by FCM scatter plot.

METHODSUsing pAdEasy-Track vector system the p53 recombinant plasmids was constructed and the homologous recombinants in E. coli was produced. The three kinds of recombinant adenovirus in L293 cells was generated, sequencing proved. Exogenous GFP expression in human lung cancer 801D cells infected-virus was detected by FCM scatter plot.

RESULTSp53 recombinant adenoviruses named Ad-p53(wtp), Ad-p53(del) and Ad-(empty carrier) were produced. Results of sequences indicate that the Ad-p53(del) was deletion of 111 bases before stop codon TGA and of 3 untranslated region at p53, the Ad-p53(wtp) no loss of any p53 base, the Ad-(empty carrier) no p53 sequence. FCM scatter plot indicate the percentage of 801D cells expressed GFP with three kinds of viral infection was almost same and was increased with the virus density. 801D contains ratio of cells with different fluorescence intensity.

CONCLUSIONThe preparation of recombinant adenovirus, Ad-p53(del), pA-p53(wtp) and Ad-(empty carrier). The cells expressed-GFP can be quantitatively detected by FCM scatter plot. It was provide that the reliability of the virus system and accurate method for selecting viruses density to infecting cells.

Adenoviridae ; genetics ; Animals ; Flow Cytometry ; methods ; Genes, p53 ; Green Fluorescent Proteins ; genetics ; Humans ; Mice ; Recombination, Genetic