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 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.

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.

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 impact of childhood traumatic experiences on individual risktaking decisions in early adulthood using functional nearinfrared spectroscopy (fNIRS), so as to provide the reference for clarifying the brain mechanisms underlying the impact of childhood trauma on individual risky decision. Methods: From December 2023 to March 2024, 28 children with childhood trauma experiences (trauma group) and 32 healthy college students (control group) were selected from Jining Medical University by a combination of stratified descent and convenient sampling methods. All subjects participated in the Iowa Game task fNIRS scanning. The brain activation, functional connectivity, graph theory properties (degree centrality, betweenness centrality, and local efficiency), and Receiver Operating Characteristic (ROC) analysis were performed by using preprocessing fNIRS data. Results: Compared with control group, trauma group showed significantly fewer choice times in the inferior deck (Z=-0.88), and showed significantly decreased activation levels in the right frontalpolar (Z=-2.59), as well as showed significant decreased functional connectivity between left dorsolateral prefrontal and in right dorsolateral prefrontal (Z=-3.78), and between left dorsolateral prefrontal cortex and the right frontal pole (Z=-3.68)(P<0.05). The central index of right inferior frontal gyrus in the trauma group was higher than that in the control group, while the central index of left and right dorsolateral frontal lobes was lower than that in the control group (Z=2.13, -2.53, -2.12, P<0.05). The centrality index of the right inferior frontal gyrus in the trauma group was higher than that in the control group (Z=2.47, P<0.05). The local efficiency indicators of the right inferior frontal gyrus, left and right frontal pole in the trauma group were higher than those in the control group (Z=2.51, 2.17, 2.53, P<0.05). The results of the ROC curve analysis showed that the local efficiency achieved the highest area under the curve (AUC=0.68). Conclusions Young adults with childhood trauma experience tend to choose lower loss, and the frontal pole shows a lack of activation in the whole process of risk decision performance. The abnormalities in the brain connectivity and network properties might be the neural basis of excessive defense mechanisms that childhood trauma leads to risky decisions.

OBJECTIVE: To derive more sensitive and accurate Z-scores for noninvasive prenatal testing of fetal trisomies based on a combined DNA count- and size- algorithm. METHODS: One hundred eighty women at a high risk for fetal aneuploidies underwent amniocentesis. An effective cut-off value for DNA size ratio was explored. Conventional count-based Z-scores and size ratio-corrected Z scores were calculated. The reliability of each Z-score was assessed through comparison with the results of cytogenetic analysis. RESULTS: With the cut-off value set as 150 bp, the ratio of small DNA is positively correlated with the proportion of fetal DNA. The sensitivity and specificity of conventional count-based Z-scores were 75.00%, and 98.86%, respectively. This rate has increased to nearly 100% with a count-based 150 bp size correction. CONCLUSION Compared with count-based methods alone, count-based Z-scores with 150 bp size correction may better predict fetal trisomies.

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.