Genomic diseases caused by pathogenic copy number variations (pCNVs) are a group of important causes for birth defects. At present, the methods used to detect CNV mainly include chromosomal microarray analysis (CMA) and copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS). In recent years, CNV detection technology has been widely used in the field of prenatal diagnosis. To standardize the clinical application of such technologies, the authors have formulated a guideline for the application of CNV testing in prenatal diagnosis, which includes the basic requirement, scope of application, clinical testing and consultation, procedure of CNV analysis in prenatal diagnosis, with an aim to better serve the patients.

Objective To investigate the feasibility of lymphokine activated killer(LAK) cells induced from cord blood used as adoptive cellular immunotherapy for human cancer.Methods Mononuclear cells were separated from umbilical blood(UBMC) by Ficoll,and stimulated by IL-2.The phenotypes(CD3/ CD4/ CD8) of the mononuclear cells were assayed by Flow cytometry,and their lethal activity on K562 or SKOV6 assayed by MTT colometric.The peripheral blood mononuclear cells were used as the control.Results The in vitro anti-tumor effect of LAK from cord blood was significant.Conclusion LAK from cord blood can be a source of adoptive cellular immunotherapy in the treatment of human cancer.

BACKGROUND:Transfusion guidelines pointed out:whole blood should be stored at (4±2)℃. The bacterial growth or loss of function should occur if the blood leaves the suitable storage conditions. Recipients wil suffer from different degrees of blood transfusion reaction or invalid infusion.
OBJECTIVE:To observe morphology of erythrocytes of autologous blood stored at different temperatures using microscope.
METHODS:Blood was obtained from 40 cases of acute normovolemic hemodilution and stored in ACD citrate bags. Whole blood was respectively stored at 4 ℃ and 23 ℃. Blood smear was taken respectively in the blood storage immediately, 1, 2, 3, 4, 5 and 6 hours after col ecting autologous blood. Changes in morphology of erythrocytes were observed with a microscope. Deformity rate of erythrocytes was calculated. Six blood samples were randomly selected to test pH, K+, and free hemoglobin respectively in 6-hour common temperature group and ACD banked blood within the valid period. Six blood samples were randomly selected for the bacterial culture in each group of two groups at 6 hours.
RESULTS AND CONCLUSION:There were no significant differences in abnormality rates of erythrocytes between 4 ℃ and common temperature groups at each time point. The pH, K+, free hemoglobin at six hours in the common temperature group were better than those of ACD banked blood within the valid period and there was no bacterial growth in culture between the two groups. Therefore, it is feasible to transfuse autologous blood back to the patient within 6 hours of storage at room temperature.

Objective To investigate the effect of different doses of dexmedetomidine on the median effective concentration (EC50) of propofol required to prevent the response to Supreme laryngeal mask airway (LMA) insertion in aged patients.Methods ASA Ⅰ or Ⅱ patients of both sexes,aged ≥ 65 yr,with a body mass index of 20-28 kg/m2,undergoing knee operation under general anesthesia,were randomly divided into 3 groups:control group (group C),small dose dexmedetomidine group (group D1 ) and large dose dexmedetomidine group (group D2 ).Dexmedetomidine 0.4 and 0.8 μg/kg were infused intravenously over 10 min in groups D1 and D2 respectively,while group C received the equal volume of normal saline instead.Anesthesia was induced with target-controlled infusion of propofol.The initial target plasma concentration of propofol was set at 3.5,3.0 and 2.6 μg/ml in groups C,D1 and D2 respectively.Following equilibration between the plasma and effect-site concentration of propofol,LMA was inserted when BIS value was 50-60.EC50 was determined by up-and-down sequential trial.The target plasma concentration of propofol increased/decreased by 10％ in the next patient depending on whether or not the LMA insertion response occurred.Positive LMA insertion response was defined as body movement,comer of the mouth movement,biting LMA,bucking and/or wallowing during insertion.The EC50 and 95％ confidence interval (CI) of propofol required to prevent LMA insertion response were calculated with sequential method.Results EC50(95％ CI) of propofol was 3.57 μg/ml (2.91-3.87 μg/ml),3.09 μg/ml (2.66-3.53 μg/ml) and 2.62 μg/ml (2.30-3.15 μg/ml) in groups C,D1 and D2 respectively.EC50 was significantly lower in groups D1 and D2 than in group C,and in group D2 than in group D1 ( P ＜ 0.05 ).Conclusion Dexmedetomidine 0.4 and 0.8 μg/kg infused intravenously can reduce the EC50 of propofol required to prevent the response to Supreme LMA insertion in aged patients,and the effect of 0.8 μg/kg is more obvious.

Objective To assess the left ventricular synchronization and global systolic function in patients with implanted dual-chamber (DDD) mode cardiac pacemakers by real-time three-dimensional echocardiography(RT-3DE). Methods Left ventricular systolic synchronization and global function were evaluated in 20 patients with implanted DDD mode cardiac pacemakers and 20 normal people by RT-3DE. The left ventricular end-diastolic volume (LEDV), end-systolic volume ( LESV), stroke volume (SV), left ventricular ejection fraction (LVEF), the mean value of time from the start of electrocardiographic QRS wave to the point of minimal systolic volume (Tmean) of the 17 segments and those standard deviation(T-SD),the maximal difference of time among all 17 segments(Tmax) were obtained by RT-3DE. Results Compared with control group, LESV was significantly increased,SV, LVEF were significantly decreased and T-SD,Tmax were significantly prolonged (P <0.01 ). There were no differences in LEDV and Tmean between the two groups (P>0.05). In patients group,LVEF correlated closely with T-SD (r =-0.674, P<0.05) and Tmax (r = - 0. 634, P < 0. 05). Conclusions There were left ventrieular systolic asychronization and global systolic dysfunction in patients with implanted dual-chamber (DDD) mode cardiac pacemakers,which could be assessed by RT-3DE.

OBJECTIVETo analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).

METHODSGenomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.

RESULTSFour pathogenic mutations of the DYSF gene were detected, which included a de novo mutation and three mutations with uncertain significance. In pedigree 1, the proband carried compound heterozygous mutations of c.1667T to C (p.Leu556Pro) and c.5567T to A (p.Val1856Glu), which were respectively inherited from her mother and father. Proband of pedigree 2 carried compound heterozygous mutations of c.4853A to G (p.Tyr1618Cys) and c.4876G to A (p.Val1612Ile), among which c.4876G to A (p.Val1626Ile) was also found in his father and grandfather, while c.4853A to G (p.Tyr1618Cys) was detected in his mother and grandmother.

CONCLUSIONThe two compound heterozygous mutations of the DYSF gene probably underlie the LGMD2B in the two pedigrees. Next generation sequencing has conferred great advantage for gene diagnosis of hereditary myopathy.

Birth defects are an important factor for the quality of newborn population. With the development of molecular genetic technology, an increasing number of genetic disorders leading to birth defects can now be detected. The lack of the knowledge for the basics and clinical applications of molecular genetic techniques have emerged as a shortcoming for primary care physicians who have formed the first tier prevention for birth defects. Currently, government has paid more attention to the above problems and formulated more training programs for primary obstetricians and gynecologists, e.g., "Prenatal Screening and Prenatal Diagnosis Post Training Program", "National Birth Defects Training Program", "National Primary Obstetrician Training Program". To some extent, such programs have met the urgent need for birth defect prevention in primary hospitals. But at the same time, some problems have also emerged. For instance, the knowledge for birth defects among primary obstetricians and gynecologists is poor, and there is lack of young personnel. This article has aimed to discuss the strategies to systematically improve the ability for preventing birth defects among primary care physicians by analyzing the obstacles and challenges for primary obstetricians and gynecologists in the era of molecular genetic testing.
Female ; Pregnancy ; Infant, Newborn ; Humans ; Gynecology ; Obstetrics ; Gynecologists ; Obstetricians ; Molecular Biology

Objective To investigate the clinical significance of neutrophil-to-lymphocyte ratio (NLR)in assessing response to cardiac resynchronization therapy(CRT)in elderly patients.Methods Clinical data of 105 elderly patients with chronic heart failure(CHF)who had received CRT at our hospital from January 2006 to January 2017 were retrospectively analyzed,and patients were divided into a no-response group(n=42)and a response group(n=63)according to CRT outcomes after 6 months.General clinical data were compared between the two groups.Factors influencing response to CRT were analyzed by logistic regression model analysis.The receiver-operating characteristic(ROC)curve was used to assess the predictive value of NLR in response to CRT.Results Compared with the response group,the no-response group had increased baseline levels of initial QRS width,serum creatinine(Scr) and uric acid(UA)(P ＜0.05).There was no significant difference in left ventricular ejection fraction(LVEF),left ventricular end-diastolic diameter(LVEDD),left ventricular end-systolic diameter (LVESD),the New York Heart Association (NYHA) functional classification,neutrophil count,lymphocyte count and NLR between the two groups before CRT(P＞0.05).After 6 months of CRT,the LVEDD,NYHA functional class,neutrophil count and NLR were higher,and LVEF and lymphocyte count were lower in the no-response group than in the response group(P ＜0.05).The difference in NLR between 6 months after CRT and before CRT(△NLR)was higher in the no-response group than in the response group(P ＜0.05).Multi-factor Cox regression analysis showed that NLR (OR =1.895,95％CI:1.538～5.284,P =0.031)and △NLR(OR =2.579,95％CI:2.110～8.329,P =0.005) were independent risk factors for CRT (HR =1.590,95 ％ CI:1.215 ～ 2.146,P =0.013).ROC curve analysis showed that ROCAUC of △NLR in the no-response group was 0.891,95％CI:0.832～0.937,which was higher than that at 6 months after CRT(0.813,95 ％ CI:0.765～0.864)(Z=2.712,P＜0.05).Conclusions The increase in NLR after CRT may be an early sign for noresponse to CRT,and dynamic monitoring of NLR should be promoted to assess the prognosis of patients undergoing CRT.

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.

Objective To explore the current situation and influencing factors of knowledge-attitude-practice (KAP) on early rehabilitation among elderly patients with fracture so as to provide a reference for improving rehabilitation nursing of fracture. Methods A total of 200 elderly inpatients with fracture at Liyuan Hospital of Tongji Medical College of Huazhong University of Science and Technology were selected by convenience sampling from July 2016 to Feburay 2017. The current situation of KAP of elderly patients with fracture were investigate by the self-designed early rehabilitation KAP questionnaire for fracture patients. The simple correlation and multiple linear regression was used to analyze the influencing factors of rehabilitation among elderly patients with fracture. Results The average score of knowledge, attitude and activity behavior on early rehabilitation of elderly patients with fracture was (62.45±1.32), (85.22±1.09) and (68.90±0.78). Simple correlation showed that there were statistically significant differences in the scores of knowledge, attitude and activity behavior of elderly patients with fracture among different education background, the history of fracture, length of hospital stay and whether they received guidance related to fracture (P<0.05). Multiple linear regression revealed that the independent influencing factor of the score of knowledge,attitude and activity behavior on early rehabilitation of elderly patients was the length of hospital stay, education background and whether they received guidance related to fracture respectively (R2=0.594, 0.229, 0.587). Conclusions Elderly patients with fracture were with the low awareness rate of knowledge on early rehabilitation nursing and the low compliance of self-rehabilitation behavior. Nurses in department of orthopedics should improve the special knowledge and skills on rehabilitation and provide a multilevel and multiform guidance of early rehabilitation by combining with the charactertics of low compliance of elderly patients so as to help elderly patients improve the knowledge level of early rehabilitation and promote early rehabilitation practice.