Objectives:To study the methionine dependence(Met dependence) of human primary gastric cancer cells in vitro when Met in the culture medium was replaced by its precursor homocysteine(Hcy),and the effect of methionine starvation in combination with chemotherapeutical agents on gastric cancer cells. Methods:Fresh and sterile gastric cancer samples were managed to single cell suspensions and then were cultured in Met -Hcy + and Met +Hcy - medium separately,the proliferation of tumor cells in different culture media was examined by microcytotoxicity(MTT) assay.Meanwhile,the inhibition rate of tumor cells by ADM、DDP、5 FU、MMC and MTX in Met -Hcy +medium was separately tested. Results:①In Met -Hcy + medium,the human primary gastric cancer cell decreased;②Methionine deprivation in combination with chemotherapy enhanced obviously the killing capacity of each chemotherapeutical agent. Conclusions:①Human primary gastric cancer cells in vitro appears Met dependent.②The combined application of Met -Hcy + medium and different chemotherapeutical agents could enhance the antitumor effect of chemotherapy on primary gastric cancer cells.③MTT assay was an efficient way to examine the sensititivity of methionine starvation therapy combined with individualized chemotherapeutical agents.

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

Objective To survey the current situation of core competence and job burnout for nursing professional teachers in college and to analyze the correlation between them.Methods 210 nursing teachers from 16 colleges and universities were investigated with the core competence evaluation questionnaire for nursing professional teachers and Chinese Maslach Burnout Inventory (CMBI).Results The mean score of core competence for college nursing professional teachers was (2.67±0.79) points,which was at the middle low level.The overall level of job burnout for college nursing professional teachers was between none and moderate.There was significant positive correlation between job burnout and core competence,the leadership competence,problem solving competence,professional competence,teaching competence.Conclusions The job burnout level for nursing professional teachers in college is lower than the moderate level.The core competence increases with the increase of job burnout level.Making mild stress for teacher and keeping the job burnout at mild-moderate level can improve the core competence of nursing teachers in College

Objective To compare the efficacy and safety of 1.9 μm thulium laser with transurethral resection of bladder tumor(TURBT) for the treatment of superficial bladder cancer.Methods We reviewed 53 patients with superficial bladder cancer,who were divided into 1.9 μm laser (n =25) and TURBT groups (n =28) from January 2013 to December 2015.The operation time,blood loss volume in operation,catheter indwelling time,hospital stay time,and complications,cumulative recurrence rate were compared between the two groups.Results Compared to TURBT group,1.9 μm laser group showed significantly lower rate of blood loss volume in operation (21.6 ± 4.6) min,catheter indwelling time (22.4 ± 6.4) h,hospital stay time (2.2 ± 0.7) d,less complications (12％)and recurrence(16％) (P ＜ 0.05).Conclusions 1.9 μm thulium laser is safe and effective for the treatment of patients with superficial bladder cancer.The approach has less complications than TURBT.

Objective To analyze the clinical data and TUBB4A mutation of hypomyelination with atrophy of the basal ganglia and cerebellum (HABC)in a family,thus to provide accurate genetic counseling and prenatal diagno-sis for this family with HABC,and also to provide clinical experience for the diagnosis of HABC in China.Methods The clinical data of the proband and her family members were collected at the Department of Pediatrics,Peking Univer-sity First Hospital,December 201 4,including medical history,physical signs,and brain MRI,biochemical tests and metabolic disease screening.The associated gene of hereditary leukoencephalopathy was screened for the proband and her family members were screened by targeting -high -throughput sequencing technology,and then the genetic varia-tions were verified by Sanger sequencing.With those detection methods,the gene mutation was confirmed,and then ge-netic features were analyzed.Results Clinical features were as follows:nystagmus as the first symptom,and motor and mental retardation,dystonia and ataxia followed.Brain MRI indicated hypomyelination of white matter and atrophy of the basal ganglia and cerebellum.The clinical diagnosis of HABC was established based on the clinical features and brain MRI features above.Genetics features showed that one novel TUBB4A c.974G >T heterozygous missense muta-tion was found from the proband,which caused an amino acid change from the Trp into Leu (p.Trp325Leu).Both of her parents with normal phenotype were of wild -type in this site.Conclusions The proband from this family was diagnosed clinically based on her clinical data.One novel TUBB4Ac.974G > T (p.Trp325Leu)was founded in this study.Therefore,the spectrum of TUBB4A mutation will be expanded.In addition,this study elucidated clinical and genetic characteristics in this family with HABC,which may lay a solid foundation for the accurate genetic counseling and prenatal diagnosis.This study reported the first case of HABC caused by TUBB4A mutation in China.

Objective To investigate the application effect of Kolb experience learning theory in community nursing teaching Methods Convenient sampling method was used to extract the class of 2013 nursing students of 120 people. They were divided into 2 groups with 60 people each. Class one was as control group, and class two was as experimental group. The control group used the tradition teaching, while the experimental group used the teaching mode based on Kolb experience learning theory with specific experience, observation, reflection, active practice four phase of the cycle of learning teaching method. After the teaching the teaching effectiveness was evaluated by the method of theory test, the questionnaire survey. Results The theory exam results of class and the end of the end term were （42.75±2.21），（79.67±3.61）scores in experimental group. The theory exam results of class and the end of term werer（40.65±2.68）,（75.22±4.41）scores. There were significant differences, t=-4.68、-6.05，P＜0.05. The score of learning different dimensions (interest in learning, evaluation thinking ability, cooperation and communication ability, comprehensive analysis ability and problem solving skills) were（2.03±1.01）,（15.22±1.12）,（12.82±1.00）,（14.72±0.99）,（12.68±0.95） points in experimental group and （4.02±0.77），（13.93±1.02），（11.98±1.19），（13.18±0.95），（11.43±0.98）points in control group. There were significant differences，t=-6.21、-6.55、-4.16、-8.65、-7.10，P＜0.05. Conclusions The teaching mode based on Kolb experience learning theory in community nursing teaching can improve the students’ interest in learning and study effect, and push forward the reform of teaching the implementation of teaching reform.

Objective To investigate the influence of postoperative groin pressure on transabdominal preperitoneal hernioplasty (TAPP).Methods From Mar 2015 to Jul 2016 113 TAPP cases were prospectively divided into two groups,with observation group not taking any measures and intervention group using salt bag of 500 g to compress inguinal region for 12 hours.Postoperative recovery was compared between the two groups.Results After 48 hours,there was no significant difference between the two groups in pain,local complications,scrotum or labia majora swelling remission rate and urinary retention (P ＞ 0.05).However,the observation group had a less foreign body sensation (P =0.038).After 1 month,the two groups had no significant difference in terms of pain,foreign body sensation,sexual life and scrotum or labia majora swelling residual rate (P ＞ 0.05).Conclusions Groin region compression after TAPP does not help alleviate the pain,or reduce the incidence of local complications,and it does increase the foreign body sensation.

OBJECTIVETo explore the correlation between 13q33-q34 microdeletion and clinical phenotype.

METHODSRoutine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations.

RESULTSThe karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13). Patient 3 showed 46, XX, r(13) (p11.2q32) [43]/45, XX, 13[4]/46, XX, r(13;13) [2]/47, XX, 2r(13;13) [1]. Patient 4 did not undergo chromosome karyotyping analysis. Array analysis showed that four patients have different microdeletions in 13q33-34 region and had common features of 13q33-q34deletion including intellectual disability, facial dysmorphism, microcephaly, hypotonia, low birth weight and genital abnormality.

CONCLUSIONThe severity of phenotypes showed no correlation with the size of deletion in 13q33-q34. The lower percentage of patients with congenital heart disease suggested a complex pathogenesis of such disease. EFNB2, LIG4 and SOX1 in 13q33-34 region are promising candidates for mental retardation. LIG4 was also a likely candidate for microcephaly.

Child, Preschool ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Infant ; Intellectual Disability ; genetics ; Male

OBJECTIVETo explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis.

METHODSKaryotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts.

RESULTSDNA sequencing showed the proband of family 1 has carried a novel maternal UBE3A splice acceptor site mutation, resulting in a guanine-to-cytosine transversion (IVS15-1G>C). Reverse transcription PCR revealed the proband and his mother both carried heterozygous mutant transcripts with loss of 54 and 59 nucleotides in exon 16, respectively. The proband displayed severe mental retardation, ataxia, seizures and inappropriate laughter. The siblings of family 2 has carried a novel maternal missense mutation in exon 16 of the UBE3A gene (c.2540C>T). She also presented with mental retardation, absent speech, mild ataxia and inappropriate laughter.

CONCLUSIONThe novel IVS15-1G>C and c.2540 C>T mutations of the UBE3A gene probably underlie the AS in the two families. Compared with small-scale mutations, larger fragments mutations can produce more severe phenotypes.

Angelman Syndrome ; genetics ; Female ; Humans ; Karyotyping ; Male ; Mutation ; Ubiquitin-Protein Ligases ; genetics

Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10.0 years), and the most common initial symptom was gait disturbance (16 cases). At the last evaluation, the clinical features were limbs dystonia (20 cases), dysarthria (16 cases), dysphagia (11 cases), pyramidal sign (7 cases), mental regression (3 cases) and pigmentary retinopathy (5 cases). For those classic PKAN patients, the median time from onset of disease to loss of independent ambulation was 6.9 years (ranging from 2.0 to 12.0 years). Imaging data showed, except "eye of tiger" in MRI (19 cases), globus pallidus calcification in CT was also found in four patients. In gene testing, 26 different mutations in PANK2 gene were identified, and 16 of 26 were novel mutations. Moreover, c. 1502T>C (p.Ile501Asn) was the most common mutation (4 cases). Conclusion Dystonia is the major neurologic feature of classic PKAN. Disease progression is rapid, with loss of independent ambulation within 10 years after onset. Except "eye of tiger" in MRI, globus pallidus calcification in CT may be another imaging feature of PKAN.Sixteen novel mutations of PANK2 gene were identified in the study.