Objective To analyze the karyotypes of 11 cases of Turner syndrome with marker chromosome,and study the phenotypic effects resulting from the abnormal karyotype.Methods Eleven Turner syndrome patients had a mosaic karyotype and carried a marker chromosome,and 6 marker chromosomes were ring chromosomes.Their karyotypes were showed as mos.45,X/46,X,+mar or mos. 45,X/46,X,+r.Fluorescence in situ hybridization(FISH)technique with X/Y centromere probes was performed to determine the origin of the marker chromosome.Reverse chromosome painting technique was used to identify the breakpoints of two largest markers.Phenotype effects with different chromosome breakpoints were compared.Results All the 11 marker chromosomes were ring X chromosomes.The breakpoints of the r(X)were involved in Xp22,Xq22,Xq24 and Xq26,etc.Conclusions The marker chromosomes in Turner syndrome mainly originate from X chromosome and form ring chromosome X.Each r (X)in our patients was mosaic,indicating it was originated from mitosis error during early embryo development.To analyze the origin of the marker chromosome and the breakpoint of r(X)will provide guidance for the therapy and prognosis of the Turner syndrome patient.

This project is targeted on exploring some improving approaches to isolate and culture the microorganisms which are difficult to be isolated and cultured through the conventional ways. The results showed that betaine, sodium pyruvate, SOD and catalase are helpful for increasing the total number and variety of isolated strains. A kind of combined method was also used to isolate the micro-colony which can not be seen by naked eyes on the plates. Totally 52 Actinomycetes and 103 bacteria and 17 fungi were obtained from 4 soil samples using the above methods. 4. 325% microorganisms were obtained as positive strains to inhibit the growth of some kinds of test bacteria, which is higher than the percent using generally isolated ones. These microbial natural products may remain an important resource for the drug discovery.

Objective To investigate the ability of nurse-patient communication and Self-efficacy between baccalaureate and associate nursing students, and provide instruction for fostering the nurses' positive ability of nurse-patient communication and Self-efficacy. Methods Thirty baccalaureate nursing students from Grade 2005 and 30 associate nursing students from Grade 2006 in the nursing school of Mudanjiang Medical College were selected by random sampling and were investigated with the ability nurse-patient communication Scale by XuYaHong and General Self-Efficacy Scale by Ralf scchwarzer. Results The total level of nursepatient communication ability was medium or above that. There was significantly different in the ability of nursepatient communication between nurses with different educational level in terms of the total scores of nurse-patient communication, scores of coffering information and understanding patients, those in baccalaureate nursing students were higher than those in associate nursing students. Conclusions The clinicle teacher must take implemation to cultivate the ability of nurse-patient communication during the clinical practice. The result suggests that teachers should build the students' positive self-efficacy to improve their nurse-patient communication, ability.

Objective To explore the feasibility , necessity and teaching content of integrated traditional Chinese medicine and western medicine nursing education in Adult Nursing curriculum, and to provide the basis of building the content of textbook on the integrated traditional Chinese medicine and western medicine in Adult Nursing.Methods One hundred and sixty experts , who were chief editors , deputy editors and editors and attended the meeting to compile the nursing textbook for National Traditional Chinese Medicine University in August 14-16th, 2011 in Hangzhou, were surveyed by self-designed questionnaire .Results Thinking that Chinese nurses should receive the traditional Chinese medicine nursing education accounted for 80%;Thinking that carrying out the integrated traditional Chinese medicine and western medicine nursing in the clinical practice was necessary accounted for 93.1%;Thinking that clinical nursing course should combine with the knowledge of integrated traditional Chinese medicine and western medicine nursing accounted for 73.8%; Thinking that clinical nursing course should be integrated into the health preserving of traditional Chinese medicine and preventive health care knowledge accounted for 88.7%.Thinking that the disease kinds which fitted to combine with more than 50%of knowledge of integrated traditional Chinese medicine and western medicine nursing were 44 in the common diseases of medicine and surgery .Conclusions The content of textbook on Adult Nursing should combine with the knowledge of integrated traditional Chinese medicine and western medicine nursing , and that is feasibility and necessity .

OBJECTIVETo search for the possible relation between tortilcollis and partial chromosome 13q trisomy.

METHODSFluorescence in situ hybridization (FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously.

RESULTSThe two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis.

CONCLUSIONIt is suggested that a potential site for tortilcollis may locate on the long arm of chromosome 13. With reference to a report previously published, the more precise candidate related region may be 13q32--> qter.

Child ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; genetics ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Torticollis ; genetics ; Trisomy ; genetics

Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 9 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Microdissection ; methods ; Pregnancy ; Prenatal Diagnosis ; methods

Objective To investigate the distribution characteristics of methicillin-resistant Staphylococcus aureus (MRSA)in a children's hospital,and provide basis for the prevention and control of MRSA infection in children. Methods Children who admitted to a children's hospital from 2011 to 2015 were analyzed retrospectively,clinical data of children,isolation of pathogens,types of specimens,and healthcare-associated infection(HAI)status were analyzed.Results From 2011 to 2015,a total of 911 children isolated Staphylococcus aureus (SA,1108 positive specimens),494 of whom isolated MRSA (599 positive specimens),54.23% of children isolated MRSA(isolation rate of specimens was 54.06%);there was no significant difference in the isolation rate of MRSA between children of different genders(P > 0.05);isolation rate of MRSA in different age groups was statistically significant(P <0.05).Isolation rates of MRSA from blood,puncture fluid,secretion,and pus were 68.97%,66.00%,55.81%, and 54.47% respectively.Isolation rate of SA and MRSA increased from 0.61% and 21.74% in 2011 to 1.40%and 75.59% in 2015 respectively,difference were both significant(both P <0.05).Incidence of SA and MRSA in-creased from 0.198% in 2011 to 2.697% and 2.119% in 2015 respectively,both showed an upward trend year by year(both P <0.05).Conclusion Isolation rate of MRSA and incidence of HAI in this children's hospital increased year by year,it is necessary to intensify management,use antimicrobial agents scientifically and rationally,timelyperform disinfection and isolation,so as to curb the emergence and spread of MRSA in hospital settings.

OBJECTIVE: To explore the relationship between chromosome anomaly and spontaneous abortion, and to provide useful information for genetic counseling and prenatal diagnosis in reproductive clinic. METHODS: A total of 1 780 patients who had a history of spontaneous abortion before 24 weeks of gestation were enrolled. The lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- banding in some cases in addition. RESULTS: Altogether 57 abnormal karyotypes were found and the overall incidence of chromosomal abnormalities was 3.20% (women 3.32%; men 2.12%). Among them 23 cases were the balanced translocation; 14 cases were the Robertsonian translocation, 3 cases were the complex chromosomal rearrangement, and the other 17 cases were the other abnormalities. In women with 1, 2, 3 or more spontaneous abortion, the incidence of chromosomal abnormalities was 1.7%, 2.3%, and 5.8%, respectively. CONCLUSION Translocations are the major abnormal karyotpes associated with spontaneous abortions. The chance of finding chromosomal aberration increases with the number of abortions. Chromosomal abnormalities are more common in women with 3 or more spontaneous abortions.
Abortion, Spontaneous ; genetics ; pathology ; Adult ; Chromosome Aberrations ; Cytogenetic Analysis ; Female ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic

OBJECTIVETo investigate the value of bone marrow-mesenchymal stem cells (BM-MSCs) transformed by nucleus pulposus (NPs) for construction of tissue engineering disc.

METHODSBM-MSCs and fetal NPs were cultured in vitro, planted on polylactic acid-polyglycolic acid copolymer (PLGA), and observed with inverted microscope and scanning electronic microscope. PLGA scaffolds with adherent BM-MSCs and NPs, as well as BM-MSCs and NPs suspension were implanted into intervertebral discs of New Zealand white rabbits, respectively. Intervertebral signal intensity was evaluated by Thompson grading 12 weeks later. Proteoglycan and type IIcollagen were determined by spectrophotometric method and immunohistochemistry, respectively.

RESULTSSpindle or multi-angular BM-MSCs turned into fibro-like phenotype coculture of BM-MSCs and NPs, which grew well with normal morphology when they attached on PLGA scaffolds. There was statistical difference in intervertebral signal intensity, and the expression of proteoglycan and type IIcollagen between PLGA scaffolds group and control group (P < 0.05), the content of proteoglycan was (3.93 ± 0.31) mg/100 mg in the PLGA scaffolds group whereas (3.52 ± 0.26) mg/100 mg in the control group.

CONCLUSIONSBM-MSCs can be induced into NPs by cocultivation, and PLGA scaffolds can provide good growing conditions, and maintain high mechanical properties and spacial structure which meet the requirement of tissue engineering disc to prevent degeneration.

Animals ; Cells, Cultured ; Humans ; Intervertebral Disc ; cytology ; Lactic Acid ; Mesenchymal Stromal Cells ; cytology ; Polyglycolic Acid ; Rabbits ; Tissue Engineering ; methods ; Tissue Scaffolds

OBJECTIVETo determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family.

METHODSHigh-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze the patient and his parents. In addition, single nucleotide polymorphism-based arrays (SNP-Array) analysis with Affymetrix GeneChip Genome-wide Human SNP Nsp/Sty 6.0 were also performed to analyze the patient.

RESULTSKaryotype analysis indicated that the patient has carried a terminal deletion in 5p. FISH with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are deleted. SNP-Array has detected a 15 Mb deletion at 5p and a 2 Mb duplication at 18p. FISH with 5p subtelomeric probes and 18p subtelomeric probe further confirmed that the derivative chromosome 5 has derived from a translocation between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn karyotype.

CONCLUSIONA de novo 5p partial deletion in conjunction with a cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat syndrome. His parents, both with negative findings, have a low recurrence risk. For its ability to detect chromosomal imbalance, SNP-Array has a great value for counseling of similar patients and assessment of recurrence risks.

Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; diagnosis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Trisomy