Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking University First Hospital from January 4, 2005 to December 31, 2013 were analyzed. According to the etiology of their previous abnormal pregnancy, these women were divided into four groups: 273 women had children with inherited metabolic disorders or single-gene genetic diseases (group A), 81 women had children or fetuses with chromosome abnormalities (group B), eight cases had an abnormal chromosomal karyotype in either husband or wife (group C), and 833 women had abnormal pregnancy of unknown causes(group D). Results Forty-eight [4.0%(48/1 193)] and fetuses were found to have abnormal chromosomal karyotypes, including 26 cases of chromosome polymorphism variations and 22 cases of numerical and structural abnormalities (four cases of trisomy 21, four cases of numerical sex chromosome abnormalities, three cases of trisomy 18, three cases of extra small chromosome mosaicism, three cases of reciprocal translocation, one case of Robertsonian translocation, one case of chromosome six inversion between the arms, one case of chromosome three inversion between the arms, one case of mosaicism of trisomy 14 and one case of structural abnormality of chromosome 14). In group A, four cases (1.5%) of chromosomal abnormalities of clinical significance and four cases of chromosome polymorphism variations were detected. Meanwhile, 61 fetuses with inherited metabolic disorders or single-gene genetic diseases and two cases of gene mutation carriers were detected in group A, but among whom, there were no abnormal chromosome karyotype cases. In group B, two cases (2.5%) of chromosomal abnormalities were found. In group C, two cases (2/8) of reciprocal translocation were found, whose karyotypes were the same as the parents. In group D, three cases of trisomy 21, three cases of trisomy 18, two cases of extra small chromosome mosaicism and two cases of numerical sex chromosome abnormalities were found. All the mothers in this group were of advanced age. Four cases of structural abnormalities and 22 cases of chromosome polymorphism variations were also found in this group, chromosomal analysis was subsequently performed in those couples, and found that the abnormal chromosomal karyotypes in the fetuses were the same as those in the parents. Conclusions Appropriate prenatal cell genetic diagnostic methods should be chosen according to the causes of abnormal pregnancy history.

Objective To investigate the underlying mutation in a late-onset Chinese patient with classic Bartter syndrome. Methods The mutation analysis of CLCNKB gene was performed by the PCR direct sequencing. The patient's parents and siblings were studied as well. Fifty normal volunteers were analyzed as control group. Results The heterozygous deletion mutation cDNA 753delG and heterozygous missense mutation G433E were detected in the patient. Her father was found to carry heterozygous G433E and her mother to carry cDNA 753delG mutation respectively. Her brother carried heterozygous G433E and her sister was normal. Conclusions Two mutations of the CLCNKB gene in this Chinese patient with late-onset classic Bartter syndrome are identified. The cDNA 753delG mutation has not been reported previously.

Objective To investigate the effect of family supporting system on psychological emotion and quality life of leukemic children′s parents. Methods Fifty-eight parents of children with leukemia hosptalized from Juanary to December 2013 were set as control group, which received traditional education. Fifty-nine parents of children with leukemia hospitalized from Juanary to December 2014 were set as observation group which received family supporting system. The survey was done separately before intervention and 6 months after treatment by depression self rating scale (SDS), anxiety self-assessment scale (SAS) and SF-36 (the MOS 36 items short form health survey). Result There were statistical significances in the scores on SDS, SAS and SF-36 as compared those with the pre-intervention (P<0.05). Conclusion The leukemic children parents supporting system can effectively reduce the parents′depression and anxiety and improve their quality of life.

Objective To establish a cosmetic medicine bio-psycho-social model and its theory frame and a new clinical work system. Methods The clinical observation and clustering analysis were used in this study, which based on the modern medicine patterns to carry on the logical proof, theory derivation and systematic design. Results The bio-psycho-social model of cosmetic me dicine with combination of the theory and practice was established, including its concept, theory constitution and clinical work system. Conclusion The bio-psycho-social model of cosmetic medicine can most scientifically and comprehensively explain this discipline rule and clinical work, and it will bring the profound influence on the development of the theory and practice in cosmetic medicine.

Objective:To explore the relationship of NSCL/P with MTHFR gene polymorphism in Xinjiang Uyghur and Han popula-tion and the ethnic difference.Methods:rs1801131 and rs1801133 polymorphism was detected by SNaPshot genotype method in 170 children with NSCL/P and 100 healthy controls of Uyghur and Han population.Results:Rs1801133 TT and T allele was statistically difference between 2 nationalities(P <0.05),Rs1801133 CT and CT +TT genotypes in total case group and control group were sta-tistically different(P <0.05);Rs1801131 and rs1801133 conjoint analysis showed that between the 2 nationalities and between case and control groups of total population were statistically different(P <0.05);rs1801131 genotype between 2 nationalities or total cases and controls were not statistically different(P >0.05).Conclusion:Rs1801133 TT and T allele in Han nationality are more likely to suffer from NSCL/P than in Uyghur,rs1801133 CT and CT +TT genotypes are protective factors.Rs1801131AC and rs1801133CC conjoint is relevant to NSCL/P,and the risk in Uyghur is higher than in Han.MTHFR rs1801131 gene polymorphism may not be relat-ed with NSCL/P in Uyghur or Han.

Objective To perform a prenatal diagnosis for the second fetuses from 28 pedigrees with proband of mitochondrial disease due to mitochondrial DNA (mtDNA) mutation.Methods From April 2011 to November 2015,peripheral blood samples of 28 probands and their parents,urine samples of these probands and their mothers as well as amniotic fluid samples of the second fetuses from the 28 pedigrees were collected in Peking University First Hospital.DNA sequencing was used to identify mtDNA mutations.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to verify mutation sites,calculate mutation loads,and further confirm the diagnosis after birth.Microsatellite maker analysis was also performed on five short tandem repeats located in nuclear genes to exclude maternal contamination.Statistical analysis was carried out using independent t-test.Results In the 15 pedigrees carrying A3243G mutation,13 mothers and nine fetuses carried A3243G mutation.Neither the other two mothers nor their fetuses were positive for A3243G mutation.Among the 12 pedigrees with T8993G mutation,there were eight mothers carrying T8993G mutation and all of their fetuses carried the same mutation;and the other four mothers and their fetuses were negative for T8993G mutation.T10191C mutation was only found in one proband and the second fetus of that pedigree,but not in the mother.None of the fathers had mtDNA mutation.Results of PCR-RFLP were consistent with those of DNA sequencing.Short tandem repeat analysis demonstrated that amniocyte samples were from fetuses without maternal contamination.No mtDNA mutations were found in the six newborns who were negative for mtDNA mutations in prenatal diagnosis.The mean mutation load in urine samples of the six mothers without A3243G mutation in amniocytes was significantly lower than that of the nine mothers with A3243G mutation [(10.1 ±4.8) ％ vs (28.2 ± 15.1) ％,t=2.290,P=0.043].Conclusions The lower the mtDNA mutation load in maternal urine samples,the less the possibility she bears a child with mtDNA mutation.However,prenatal diagnosis of mitochondrial disease is necessary.

Cerebellum ; surgery ; Cystadenoma, Papillary ; complications ; pathology ; surgery ; Epididymis ; pathology ; surgery ; Follow-Up Studies ; Genital Neoplasms, Male ; complications ; pathology ; surgery ; Humans ; Keratin-7 ; metabolism ; Kidney ; surgery ; Male ; Middle Aged ; Mucin-1 ; metabolism ; Vimentin ; metabolism ; von Hippel-Lindau Disease ; complications ; metabolism ; pathology ; surgery

OBJECTIVETo study the clinical effect of combination of kurarinone (KR) and interferon a-lb (IFNalpha-1b) in treating chronic hepatitis B.

METHODSOne hundred and forty-six patients with chronic hepatitis B were randomized into four groups. Under the basic conventional treatment, additional KR combined IFNa-lb was given to Group A, IFNa-lb to Group B and KR to Group C while none was given to Group D. The therapeutic course for them was 6 months and succeeded with 6 months of follow-up. Changes in liver histology, expression of transforming growth factor beta (TGF-beta) in liver tissue, and serum levels of TGF-beta, hyaluronic acid (HA), laminin (LN), collagen type IV (IVC), precollagen III (PCIII), as well as the negative conversion rate of HBeAg and HBV DNA, and normalization rate of alanine transaminase (ALT) before and after treatment were observed by immuno chemical method, RIA and ELISA.

RESULTSAfter treatment, in Group A, the scores of liver fibrosis and all the above-mentioned indexes significantly lowered, as compared with those in Group B and C, the difference was significant (P<0.05 or P<0.01). The negative conversion rate of TGF-beta in liver tissue was in accordance with the dynamic change of liver fibrosis. Comparison between Group B and C in those aspects showed insignificant difference (P >0.05).

CONCLUSIONKR combined with IFNalpha-1b shows better effect in treating chronic hepatitis B than that of using either of the two alone.

Adult ; DNA, Viral ; blood ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Flavonoids ; therapeutic use ; Hepatitis B e Antigens ; blood ; Hepatitis B virus ; isolation & purification ; Hepatitis B, Chronic ; drug therapy ; Humans ; Interferon-alpha ; therapeutic use ; Male ; Middle Aged ; Phytotherapy

Objective To analyze the feasibility of rapid prenatal diagnosis in the advanced maternal age women with or without positive serologic screening results.Methods We conducted a retrospective study of the women who underwent a mid-trimester amniocentesis in Peking University First Hospital from January 1,2001 to December 31,2012.Maternal age,indication for invasive prenatal diagnosis,karyotyping and pregnancy outcome were documented.Using a young population with high risk in serologic screening (S) as the standard,chromosome abnormalities in the advanced maternal age (A) group and the advanced maternal age with high risk in serologic screening (A+S) group were compared with the S group.Chromosome abnormalities were divided into detectable (D) and undetectable (U) during rapid prenatal diagnosis.Results Of 9 606 cases,222 (2.3％,222/9 606) cases with chromosome abnormalities were detected,23.0％ (51/222) of which were undetectable by rapid prenatal diagnosis.The detection rate of detectable chromosome abnormalities was 1.8％ (57/3 177) in group A,1.4％(13/925) in group A+S,and 1.8％(57/3 250) in group S (x2=0.662,P＞0.05).The rate of undetectable chromosome abnormalities was 0.5％ (15/3 177) in group A,0.3％ (3/925) in group A+S,and 0.5％ (16/3 250) in group S (x2=0.452,P＞0.05).The most common indications for undetectable chromosome abnormalities in the young population were abnormal history of pregnancy,abnormal family history and chromosome abnormality history (16.4％,9/55),and abnormal ultrasound in the advanced maternal age population (4.4％,3/68).Conclusions The performance of rapid prenatal diagnosis in the advanced maternal age population with or without high risk in screening without abnormal findings in ultrasound,was similar to the young population with high risk in screening.Fluorescent in situ hybridization may be integrated into the strategy of prenatal diagnosis for this group of women.

Objective To analyze the clinical application of fluorescence in situ hybridization ( FISH) and karyotype analysis in prenatal diagnosis of chromosomal abnormalities .Methods The prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes (chromosome 13,18, 21,X,Y) in interphase amniocytes of 1 809 pregnant women of 17-38 weeks of gestational age was used , comparisons with the karyotyping results was done simultaneously.All the 1 809 cases came from Peking University First Hospital from July 1,2012 to December 31,2013, and the relevant clinical data and birth follow-up information were collected.Results All the 1 809 cases had been successfully examined by FISH , including 1 767 normal cases and 42 cases of numerical abnormality (39 cases of aneuploid, 1 case of triploid and 2 cases of mosaicism),which were consistent with the karyotyping analysis .What′s more,34 cases of chromosomal structural abnormalities , 5 cases of chimera and 12 cases of normal variant were failed to detected by FISH.Conclusion With the advantages of high-speed,simplicity,high accuracy,etc,FISH can be an effective tool in clinical applications , and had great significances in cytogenetic prenatal diagnosis combined with karyotyping analysis.