OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

The purpose of this article is to explore the diagnosis of Internet addiction （gaming disorder） and its research hotspot. Gaming disorder is basically an addictive behavior and is reinforced by obtaining positive emotion and alleviating negative experience. By introducing a complex comorbidity clinical case， this article talked about addictive behavior， gaming disorder and other related issues， and discusses the debate of the diagnosis of gaming disorder and its possible future changes， the treatment， the current main problems and research hotspot.

Asperger′s syndrome (AS) is a neurodevelopmental disorder characterised by difficulty in social interaction, restricted interests and stereotyped behavior, usually with clumsy movements. AS generally starts in childhood, but because of its normal intellectual development and linguistic competence, some patients may be delayed or even diagnosed in adulthood. The core clinical symptoms between adults AS and children AS are similar, including deficiency in social interaction and non-verbal communication impairment, narrow interest range and stereotyped behavior, commonly with psychiatric comorbidities. Many cases of adult AS have reported psychiatric comorbidities, among which mood disorders are the most common comorbidity of adult AS. This article is written on a case of adult AS comorbidity with major depressive disorder and problematic internet use in the outpatient of our hospital.

Asperger′s syndrome (AS) is a neurodevelopmental disorder characterised by difficulty in social interaction, restricted interests and stereotyped behavior, usually with clumsy movements. AS generally starts in childhood, but because of its normal intellectual development and linguistic competence, some patients may be delayed or even diagnosed in adulthood. The core clinical symptoms between adults AS and children AS are similar, including deficiency in social interaction and non-verbal communication impairment, narrow interest range and stereotyped behavior, commonly with psychiatric comorbidities. Many cases of adult AS have reported psychiatric comorbidities, among which mood disorders are the most common comorbidity of adult AS. This article is written on a case of adult AS comorbidity with major depressive disorder and problematic internet use in the outpatient of our hospital.

Objective To study on the application of biological variation total allowable error in quality management of serum lipid detection .Methods The σ score ,quality goal index (QGI) ,priority improvement measures and performance evaluation of lipid accuracy criteria were evaluated ,including cholesterol (CHOL) ,triglyceride (TG) ,high density lipoprotein (HDL‐C) ,low density lipoprotein (LDL‐C) ,which included in the standard of accuracy of the Ministry of Health in 2015 .The reason for unsatisfactory re‐sults of cholesterol (CHOL) test were analyzed .Results Based on the three levels of quality specifications derived in biological var‐iation ,when the total allowable error was located at an appropriate level ,the σ score of TG ,HDL‐C ,LDL‐C reached 6 ,it was not re‐quired for improvement .While the score of CHOL performance analysis was poor ,accuracy was required to give priority to impro‐ving .When the total allowable error reached the best level ,only the σ score of TG achieved “good” in the four items ,improvement of precision was needed .When the total allowable error was located at the lowest level ,the σ score of TG ,HDL‐C ,LDL‐C was grea‐ter than 6 ,the score of performance analysis reached the “excellent” .The σ score of CHOL (2 .9) had been closen to 3σ ,accuracy was required to be corrected .Conclusion The biological variation derived total allowable error is easy to meet the requirements of the quality management in serum lipid determination by current technologies and methods .The theory of 6σ quality can reflect the performance of detection indexes ,and improve the quality of analysis effectively .

Objective To provide the evidence for cooperation in research on Kashin-Beck disease in China by ana-lyzing the research competence of authors in papers on Kashin-Beck disease and their cooperation .Methods Papers on Kashin-Beck disease were retrieved from 4 commonly used Chinese perodical databases .Key words Information was collected and organized using BICOMS to produce a co-words matrix,atlas of co-words was plotted using NetDraw, the data were analyzed using SPSS 17.0.Results Of the 3454 authors engaged in research of Kashin-Beck disease from 1957 to 2012,81 published 15 or more than 15 papers.Cluster analysis showed that these 81 authors were from Institute of Endemic Diseases,Xi'an Jiaotong University Medical School; Institute of Kashin-Beck Disease,Chinese Center for Endemic Disease Prevention and Control;Jilin No.2 Center for Endemic Disease Prevention and Control;Centers for Disease Prevention and Control of China Academy of Sciences , Henan Province and Gansu Province .Conclusion A large number of researchers are engaged in research of Kashin-Beck disease .Their research interest and charac-teristics are clear.However, the cooperation between different institutions is weak and should be strengthened.

Objective To reveal the main interests in studies of Kashin-Beck disease by analyzing the key words in Chinese papers on Kashin-Beck disease .Methods Chinese papers on Kashin-Beck disease were retrieved from CNKI, CBM, VIP, and Wanfang digital journal full-text database.A co-word matrix was generated by abstracting their key words which were analyzed by gCLUTO clustering .Results The studies on Kashin-Beck disease were centered on the role of fusarium metabolic toxins and fulvic acid in pathology of Kashin-Beck disease, etiology of Kashin-Beck disease, functional change in Kashin-Beck disease patients, relation between Kashin-Beck disease and geological envi-ronment, monitoring and X-ray diagnosis of Kashin-Beck disease, surgical treatment of Kashin-Beck disease, preven-tion and treatment efficiency analysis of Kashin-Beck disease.Social network figure showed that etiology of Kashin-Beck disease, relation between Kashin-Beck disease and geological environment, monitoring and X-ray diagnosis of Kashin-Beck disease, surgical treatment of Kashin-Beck disease, prevention and treatment efficiency analysis of Kashin-Beck disease were the hot spots in studies of Kashin-Beck disease at present.Conclusion The research subjects determined by co-word clustering analysis are consistent with the interests in studies of Kashin-Beck disease in China at present.

OBJECTIVETo compare the postoperative recovery among patients undergoing orthotopic bladder substitution with sigmoid or ileal grafts.

METHODSThe clinical data and postoperative recovery (postoperative complications, continence recovery time and postoperative hospital stay) of 84 patients receiving orthotopic bladder substitution with sigmoid or ileal grafts after radical cystectomy for bladder cancer were analyzed.

RESULTSOf the 84 cases, 70 had continent urinary reservoirs constructed, among whom 58 (aged 48-89 years) received an ileal neobladder (IN) and 12 (aged 28-80 years) received a sigmoid neobladder (SN). The postoperative complications rate, continence recovery time and postoperative hospital stay in IN group was 29.3% (17/58), 91.4%, and 23.5 days, as compared to 58.3%(7/12) (P=0.04), 66.7% (P=0.03), and 25 days (P=0.04) in patients in SN group, respectively.

CONCLUSIONA neobladder constructed from ileal grafts achieves better postoperative recovery results compared to a neobladder constructed from sigmoid grafts.

Adult ; Aged ; Aged, 80 and over ; Colon, Sigmoid ; transplantation ; Female ; Humans ; Ileum ; transplantation ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; methods ; rehabilitation ; Urinary Bladder Neoplasms ; rehabilitation ; surgery ; Urinary Diversion ; methods ; rehabilitation

Objective To investigate the role of adiponectin in the cell growth,apoptosis and cell cycle of the T47D breast cancer cell line and to find out the pathogenesis of breast cancer.Methods The cell cycle of the T47D cell line was examined by flow cytometry and apoptosis was detected by Annexin Ⅴ-FITC/PI stain method.Results T47D cell line adhered to the cell wall by single layer culture,irregular shape,and cell amounts increased over time.(1) Though different concentrations of adiponectin had a certain action on restraining the cell in different times,there were no significance(P＞0.05).(2)After treated with 500 ng/ml and 2000 ng/ml adiponectin on T47D cells for 48 h,the proportion of G0/G1 phase was (91.07±0.63)％,(91.60±0.98)％,respectively.Compared with the control group (85.31±1.07)％,the difference was statistically significant(F=29.277,P=0.011).But the difference of S and G2/M phase was not statistically significant(P＞0.05).(3) The difference of early apoptosis rate among control group,500 ng/ml and 2000 ng/ml adiponectin was not statistically significant(P＞0.05).The same concentration of adiponectin could not induce the early apoptosis and total apoptosis of T47D cells(P＞0.05,respectively).Conclusion The low adiponectin level may be the risk factor of breast cancer.The adiponectin may regulate the distribution of cell cycle.It may induce G0/G1 phase arrest of T47D cells and reduce the DNA synthesis.It suggested that adiponectin may serve as a protective factor of breast cancer development.

Objective To observe the effect of leptin on proliferation and apoptosis of breast cancer MCF-7 cell line,and to explore the effect of leptin on occurrence and development of breast cancer.Method The MCF-7 cell line was treated with different concentration of leptin in vitro.Cell proliferation was evaluated by MTT assay. Distribution of cell cycle was determined by flow cytomery, meanwhile the rates of apoptosis were estimated on the basis of Annexin V-FITC/PI apoptosis detection. Results When treated with different concentration of leptin for 24 h, 48 h and 72 h, they could significantly induce the proliferation of MCF-7 cells by MTT method.There was not interaction between concentration of leptin and time course (F=0.919,P=0.523).The main effect of concentration of leptin and time course was statistically significant (F=12.699,P=0.000;F=647.881, P=0.000). Compared 200 ng/ml and 400 ng/ml with the control group, we found the difference was statistically significant by multiple comparison (P=0.007,P=0.000,respectively).The difference was also statistically significant among time course by multiple comparison (P=0.000,respectively).By the flow cytometry analysis,it was found that the 100 ng/ml and 400 ng/ml leptin groups could change the distribution of cell cycle of MCF-7 cell line after 48 h. Compared with control group, the cell number decreased by 14.42 ％ in G0/G1 phase (F=10.464, P=0.044),but increased by 7.57 ％ and 22.19 ％ respectively in S phase (F=47.361,P=0.005).The difference was not statistically significant in G2/M phase (F=1.77, P=0.311).However, the effect of apoptosis inhibition was not obvious. Conclusions Leptin could stimulate the proliferation of MCF-7 cell line and change the distribution of cell cycle.But leptin could not inhibit apoptosis of MCF-7 cell line.It suggested that leptin may serve as a risk factor of breast cancer development.