Objective To investigate the application of PDCA circulation in the patients undergoing liver transplantation.Methods Apart from 1 of experiment and 3 of control group failed to be followed up,116 cases undergoing liver transplantation in our liver transplant center from April 2009 to May 2011 were divided into the experiment group (n =59) and control group (n =57) by registration order.PDCA circulation was used in the experiment group,but in the control group,routine management mode was used.A self-designed questionnaire about the compliance of liver transplantation and the Satisfaction Degree of Patients to the Nursing Work and Quality of Life Index (QL-Index) were used to investigate at the first follow-up time.Results There was a significant difference between two groups in the aspects of habits and customs,drug-taking compliance,reasonable physical training,self-monitoring and the satisfaction degree of patients to the nursing work [57 vs 44,52 vs 39,51 vs 40,52 vs 40 ; 94.92％ vs 82.46％ ; x2 =6.3096,6.6646,4.5365,5.6991,4.5225,respectively;P ＜ 0.05].Overall life quality score of experimental group (6.52 ± 0.53) was higher than that in control group (4.36 ± 0.78),and the difference was statistically significant (t =17.498,P ＜ 0.05).All the items of QL-Index showed a significantly statistical difference between two groups (P ＜ 0.05).Conclusions Applying PDCA circulation can enhance the compliance and quality of life of patients undergoing liver transplantation and improve their satisfaction degree to the nursing work.

OBJECTIVERett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects.

METHODSAllele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR).

RESULTSExcept for 2 cases who had a frameshift mutation; all the remaining 13 cases had a C-->T transition mutation. Paternal origin has been determined in all cases with the C-->T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele.

CONCLUSIONDe novo mutations in sporadic RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.

Chromosome Aberrations ; Chromosomes, Human, X ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics ; X Chromosome Inactivation

OBJECTIVETo observe clinical therapeutic effect of scalp-acupuncture combined with exercise therapy on spastic cerebral palsy.

METHODSEighty children of spastic cerebral palsy were randomly divided into a scalp-acupuncture plus exercise therapy group and a exercise therapy group, 40 cases in each group. The scalp-acupuncture plus exercise therapy group were treated with scalp-acupuncture and exercise therapy, with Yundongqu (the motor area), Pinghengqu (the balance area), Ganjuequ (the sensory area), etc. selected for scalp-acupuncture, and puncture at main points Baihui (GV 20) and Sishencong (EX-HN 1) and exercise therapy. The exercise therapy group were treated by exercise therapy. Changes of GMFM scores and WeeFIM scores before and after treatment were compared.

RESULTSThere were significant differences in GMFM scores and WeeFIM scores before and treatment in the scalp-acupuncture plus exercise therapy group (P < 0.001) and in the exercise therapy group (P < 0.05), the former being better than the later (P < 0.05); the total effective rate was 92.5% in the scalp-acupuncture plus exercise therapy group and 72.5% in the exercise therapy group with a significant difference between the two groups (P < 0.05), the former being significantly higher than the later.

CONCLUSIONThe scalp-acupuncture combined with exercise therapy can improve motor function of limits of children with spastic cerebral palsy, with therapeutic effect better than that of simple exercise therapy.

Acupuncture Therapy ; Cerebral Palsy ; physiopathology ; rehabilitation ; therapy ; Child ; Child, Preschool ; Combined Modality Therapy ; Exercise Therapy ; Female ; Humans ; Male ; Meridians ; Motor Activity

Hypothalamic-pituitary-adrenal(HPA)axis-related factors in patients with type 2 diabetes were studied according to different levels of HbA1C.It showed that HPA axis was normal in HbA1C≤ 7% group[ACTH (18.03±8.39)ng/L,blood cortisol(49.22±8.68)μg/L],hyperactive in 7%11% group with weak feedback regulation[ACTH(26.08±15.41)ng/L,blood cortisol(55.64±24.27)μg/L].These results suggest that HPA axis-related factors in type 2 diabetic patients are different with different grades of glucose metabolic turbulence.

Objective To investigate the microbleeding incidence of healthy eldery population and patients with stroke.Methods 30 cases of healthy eldery population,32 cases of cerebral hemorrhage,46 cases of patients with ischemic cerebral vascular diseases were performed of MRI and GRE-T_2 ~* WI examination.Results The microbleeding incidences was 37.5% in cerebral hemorrhage group,28.1% in multiple cerebral infarction group,25.0% in Binswanger's disease group.The most frequently seen microbleeding foci located in ganglia areas,then in thalamus areas,subcortical areas and brain stem,last in cerebellar.Conclusion GRE-T_2 ~* WI,helpful for finding microbleeding and indicating lesion degree of microblooding vessels,plays an important role in the diagnosis of stroke and decision making of treatment.

OBJECTIVETo identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.

METHODSSingle nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation.

RESULTSSeventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation.

CONCLUSIONIn Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.

Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Fathers ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mothers ; Mutation ; genetics ; Parents ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics

OBJECTIVETo identify arylsulftase A gene (ARSA) mutations in a Chinese family with MLD.

METHODSThere were two MLD patients in the investigated family. The proband, an 11-year-old girl, was well until the age of 5 years, when she began to experience difficult walking and mental regression. Magnetic resonance imaging (MRI) of her brain showed widespread demyelination, nerve conduction velocity reduced, and ASA activity measured in white blood cells was zero. So, the child was diagnosed having MLD. The proband's young brother also got the same phenotype except clinical symptom being milder than hers. Their parents and elder sister all had normal phenotypes. Genomic DNA samples were extracted from peripheral bloods of the proband and all her family members. All 8 exons and exon-intron boundaries of ARSA gene were amplified by polymerase chain reaction (PCR) and followed by direct DNA sequencing.

RESULTSTwo heterozygous mutations of ARSA, which were named as, G251A (R84Q) and G296T (G99V) were identified in the proband. The two mutations were located in exon 2. The same genotype was found in the proband's young brother, but these mutations were not detected in proband's elder sister. The proband's mother had the heterozygous mutations G296T (G99V), and her father had the heterozygous mutation G251A (R84Q).

CONCLUSIONThese two MLD patients are with both compound heterozygous mutations, which mean one allele with the G296T (G99V) mutation was from their mother, and the other allele with the G251A (R84Q) mutation got from their father. The parents are both carrier with normal phenotype.

Alleles ; Base Sequence ; Cerebroside-Sulfatase ; genetics ; Child ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genotype ; Heterozygote ; Humans ; Leukodystrophy, Metachromatic ; genetics ; pathology ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree

Adolescent ; Adult ; Aged ; Arrhythmias, Cardiac ; diagnosis ; etiology ; Child ; Child, Preschool ; Ebstein Anomaly ; complications ; pathology ; Humans ; Infant ; Middle Aged ; Young Adult

Aim To study the effects of L-borneol on the chloride channel and cell volume of human umbili-cal vein endothelial cells (HUVECs). Methods Whole-cell patch-clamp technique was used to record chloride currents. The expression of ClC-3 protein was down-regulated by siRNA interference technique. The cell volume was measured by dynamic image analysis. Results 20 nmol·L-1L-borneol significantly activa-ted chloride current in HUVEC (79.59 ± 4.90) pA/pF, which could be inhibited by chloride channel blockers,NPPB and DIDS. The outward current inhib-itory rate of NPPB was (95.57 ± 2.57)%, while that of DIDS was (97.28 ± 6.36)%. The chloride current activated by L-borneol significantly decreased after the silence of ClC-3 (27.03 ± 3.89) pA/pF. Cell volume was markedly reduced by L-borneol (14.38 ± 1.58)%,which was inhibited after NPPB appliance. Conclusion L-borneol can activate ClC-3 chloride channel in HUVECs, which induces Cl- outflow then cell volume decrease.

ee of postpartum depression within 24 hours (P<0.01 ). Conclusions Postpartum rehabilitation massage can promote parturient physical and mental health, improve the quality of obstetric care and prevent and treat postpartum complications.