Efficacy of Combination of Camrelizumab with Anlotinib as Third-line Therapy for Patients with Advanced Non-small Cell Lung Cancer / 肿瘤防治研究

Objective To investigate the clinical efficacy and related adverse reactions of the combination of camrelizumab with anlotinib as the third-line therapy on advanced non-small cell lung cancer. Methods We retrospectively analyzed the clinical data of 84 patients with advanced non-small cell lung cancer after second-line treatment. According to different treatment methods, 44 patients who received camrelizumab combined with anlotinib were included in the observation group, and 40 patients who received anlotinib alone were included in the control group. The PFS, ORR, DCR and incidence of adverse reactions were analyzed and compared between the two groups. Results The median PFS of the observation group was longer than that of the control group (7.0 vs. 5.6 months, P=0.001). No statistically significant difference was observed in ORR, DCR, the incidence of adverse reactions or the incidence of adverse reactions above grade 3 between two groups (all P > 0.05). Conclusion The clinical efficacy of camrelizumab combined with anlotinib as third-line therapy on advanced non-small cell lung cancer is better than anlotinib alone, and the safety is good.

Treatment of Renal Hematuria with Traditional Chinese Medicine： A Review / 中国实验方剂学杂志

Renal hematuria is caused by glomerular damage and basement membrane rupture due to coagulation dysfunction， ischemia and hypoxia， and immune function damage， resulting in red blood cells exuding through glomerular filtration membrane and excreting with urine. It is mainly manifested as microscopic and macroscopic hematuria. Among them， microscopic hematuria is characterized by microscopic urine sediment examination， there are three or more red blood cells per high-power microscopic field. Traditional Chinese medicine （TCM） believes that the pathogenesis of renal hematuria always belongs to ''asthenia in origin and sthenia in superficiality''， and ''asthenia in origin'' is caused by the deficiency of the three viscera of the lung， spleen， and kidney， while ''sthenia in superficiality'' is caused by the combination of dampness and blood stasis and the external disturbance of wind pathogens. The key pathogenesis features are ''deficiency， dampness， heat， blood stasis， and wind''. After consulting the TCM literature related to renal hematuria， the author found that the common syndrome types of renal hematuria in clinical practice were the deficiency of both Qi and Yin， the deficiency of both Yin and fire， the unsteadiness of kidney Qi， the deficiency of spleen and kidney Yang， the wind heat hurting the collateral， the dampness-heat blocking， and the blood stasis and internal resistance. The commonly used classical or temporal prescriptions included Shenqi Dihuangtang（参芪地黄汤）， Zhibai Dihuangtang（知柏地黄汤）， Wubi Shanyaowan（无比山药丸）， Jisheng Shenqiwan（济生肾气丸）， Sishenwan（四神丸）， Yinqiaosan（银翘散）， Bazhengsan（八正散）， Sanrentang（三仁汤）， Xuefu Zhuyutang（血府逐瘀汤）， Danggui Shaoyaosan（当归芍药散）， Xiaoji Yinzi（小蓟饮子）， Buzhong Yiqitang（补中益气汤）， et al. Self prepared prescriptions mainly include Tongluo Ningxue prescription （通络宁血方）， Qingre Zhixue prescription（ 清热止血方） and Wuteng Tongluo drink （五藤通络饮）. The traditional Chinese medicine is commonly used for the treatment of Xueniaoling granules（血尿灵冲剂）， Xueniaoan capsules（血尿安胶囊）， Ningmitai capsules（宁泌泰胶囊）， Huangkui capsules（黄葵胶囊） and Yishen nixuexiao granules（益肾溺血消颗粒）， which constantly enriched the treatment of renal hematuria. The combination of TCM and western medicine has obvious advantages. The treatment of renal hematuria in clinical practice often combines with modern medical methods， which has a good therapeutic effect on the improvement of symptoms and indicators of renal hematuria. At present， many doctors have made in-depth exploration on the etiology， pathogenesis， and clinical treatment of renal hematuria， but few scholars have made detailed induction and collation in recent years. Therefore， the author has collated the clinical data on the treatment of renal hematuria with TCM in the past ten years， and reviewed it from the aspects of etiology， pathogenesis， and clinical research， to provide useful references for clinical intervention and delay the progress of renal disease.

Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD).@*METHODS@#Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq).@*RESULTS@#The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23+4 weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq.@*CONCLUSION@#T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.

Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT / 中华医学遗传学杂志

OBJECTIVE@#To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT).@*METHODS@#The fetus was selected as the study subject after the NIPT detection at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences on February 18, 2019. Clinical data of the pregnant woman was collected. Fluorescence in situ hybridization (FISH), chromosomal karyotyping analysis and chromosomal microarray analysis (CMA) were carried out on amniotic fluid and umbilical cord blood and the couple's peripheral blood samples. Copy number variation sequencing (CNV-seq) was also performed on the placental and amniotic fluid samples following induced labor.@*RESULTS@#The pregnant woman, a 38-year-old G4P1 gravida, was found to have abnormal fetal development by prenatal ultrasonography. NIPT test suggested that the fetus has a high risk for trisomy 13. Chromosomal karyotyping analysis of fetal amniotic fluid and umbilical cord blood were 46,XN,add(13)(p10). The result of CMA was arr[hg19]1q41q44(223937972_249224684)×3, with the size of the repeat fragment being approximately 25.29 Mb, the fetal karyotype was thereby revised as 46,XN,der(13)t(1;13)(q41;p10). Chromosomal karyotyping analysis and CMA of the parents' peripheral blood samples showed no obvious abnormality. The CNV-seq analysis of induced placenta revealed mosaicisms of normal karyotype and trisomy 13. The CNV-seq test of induced amniotic fluid confirmed a duplication of chr1:22446001_249220000 region spanning approximately 24.75 Mb, which was in keeping with the CMA results of amniotic fluid and umbilical cord blood samples.@*CONCLUSION@#NIPT may yield false positive result due to placenta mosaicism. Invasive prenatal diagnosis should be recommended to women with a high risk by NIPT test. And analysis of placenta can explain the inconsistency between the results of NIPT and invasive prenatal diagnosis.

Huaiqihuang Granules in Treatment of Chronic Kidney Disease： A Review / 中国实验方剂学杂志

Chronic kidney disease is characterized by renal structural damage and dysfunction （for over three months） caused by various factors. In traditional Chinese medicine， chronic kidney disease can be classified as edema， ischuria， consumptive disease， and anuria and vomiting. The pathogenesis of chronic kidney disease is frequently attributed to the deficiency of lung， spleen and kidney， dampness combined with stasis， and accumulation of turbid toxin. Huaiqihuang granules are a Chinese patent medicine composed of Vanderbylia robiniophila， Lycii Fructus， and Polygonati Rhizoma， with diverse pharmacological effects such as improving immunity and protecting kidney function. It is widely used in the treatment of cancer， chronic kidney disease， and respiratory system diseases. The available studies have demonstrated that Huaiqihuang granules can intervene in the progression of chronic kidney disease via various ways， such as protecting glomerular podocytes， inhibiting the proliferation of glomerular mesangial cells， resisting renal interstitial fibrosis， alleviating renal inflammation and oxidative stress， and regulating renal cell apoptosis and the immune system function. The clinical application of Huaiqihuang granules is based on conventional treatment and has achieved remarkable effects in the treatment of children's nephrotic syndrome， diabetic nephropathy， nephritis of Schonlein-Henoch purpura， IgA nephropathy， and chronic renal failure. Scholars have achieved great progress in the research on the mechanism and the clinical application of Huaiqihuang granules in the treatment of chronic kidney disease. However， the detailed summary of the progress in recent years remains to be carried out. Therefore， this paper reviewed the available studies in this field， aiming to provide a reference for the comprehensive and extensive clinical application of Huaiqihuang granules in the treatment of chronic kidney disease.

Discussion on the pathogenesis and treatment of renal hematuria based on the theory of "warming the injured and activating the relaxed" / 国际中医中药杂志

Based on the "warming the injured and activating the relaxed" theory, this article explored the pathogenesis and treatment of renal hematuria. The pathogenesis of renal hematuria mainly lies in the deficiency of spleen and kidney, blood stasis and qi obstruction, and the internal channeling of pathogenic wind. The author put forward that "warming the injured and activating the relaxed" as the general treatment principle of renal hematuria. In clinical practice, the main treatment methods should be to cultivate and supplement the spleen and kidney, promote blood circulation and expel wind, warm and supplement the spleen and kidney to restore the fixation of the qi of the viscera, promote blood circulation and remove blood stasis to remove the blood stasis outside the blood overflow vessels, and eliminate pathogenic wind to prevent and stop the disturbance of Jingguan. In accordance with the treatment of syndrome differentiation, it emphasized both nourishing and dispelling pathogenic factors, and according to the degree of deficiency of zang-fu organs and the retention of pathogenic factors, and listed the related therapeutic drugs, which provided a new idea and method for the clinical application of TCM in the treatment of renal hematuria.

Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations / 中华预防医学杂志

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.

Behavioral-electrophysiological observation of the involvement of dopamine D1 receptor of the rat anterior cingulate cortex in the regulation of pain-related emotion / 生理学报

The present study was aimed to explore the involvement of dopamine D1 receptor of the anterior cingulate cortex (ACC) in the regulation of chronic inflammatory pain-related emotion. On the first day, the rats were acclimated to the environment and the baseline indices were measured. On the second day, the rats were administered with the dopamine D1 receptor antagonist SCH-23390 or agonist SKF38393 in the ACC, and then they were subcutaneously injected with complete Freund's adjuvant (CFA, 0.08 mL) in the left hind paw to establish conditioned place avoidance (CPA) response after pairing with specific environment. On the third day, the CPA response and the firing frequency of ACC neurons were observed synchronously, and the open-field behavior, mechanical pain behavior and paw withdrawal latency (PWL) tests were also observed subsequently. In other experiments, rats were given subcutaneous injection of normal saline (NS) on the left hind paw after SCH-23390 or SKF-38393 was administered in the ACC, and then the same observations were performed. The results showed that: (1) Compared with the control group, the PWL and mechanical pain thresholds of rats injected with CFA on the left hind paw were significantly decreased (P < 0.05); (2) The residence time of rats injected with CFA in the "pain environment" and open field center was significantly shortened (P < 0.05); (3) Pre-injection of antagonist SCH-23390 in ACC (10 μg) alleviated the anxiety-like negative behavior response induced by CFA (P < 0.05) and reversed CFA-induced increases of discharge frequency of ACC neurons (P < 0.05); (4) Pre-injection of agonist SKF-38393 in the ACC (10 μg) induced CPA-like behavioral response in rats injected with NS in the left hind paw, and increased the firing frequency of ACC neurons (P < 0.05); (5) Immunofluorescence detection showed that dopamine D1 receptor and NMDA receptor were co-expressed in the same neuron. These results suggest that inhibition of dopamine D1 receptor in ACC can alleviate the negative emotional response induced by persistent pain.

Changes of biomarkers in fluid derived from peritoneal cavity and their relationship with transport rate in peritoneum in patients with new peritoneal catheter / 国际生物医学工程杂志

Objective:To investigate the changes of biomarkers in peritoneal dialysis patients' peritoneal drainage fluid and their relationship with the peritoneal small molecule solute transport rate (PSTR).Methods:Seventy newly-tubed peritoneal dialysis patients from the Peritoneal Dialysis Center of the First Teaching Hospital of Tianjin University of Traditional Chinese Medicine from September 29, 2014 to April 26, 2018 were selected. The levels of biomarkers plasminogen activator inhibitor-1 (PAI-1), matrix metalloproteinase-2 (MMP-2) and vascular endothelial growth factor (VEGF) in the peritoneal dialysis priming fluid were measured at different time points and 4 h dialysate/blood muscle (D/P) creatinine values at 2 years of follow-up, and the correlation between biomarkers in the extracted peritoneal fluid and 4 h D/P creatinine was examined.Results:Longitudinal studies showed an increase in PAI-1 ( P<0.001) and VEGF ( P=0.04) with increasing duration of peritoneal dialysis. PSTR levels at baseline and after 2 years of follow-up were significantly correlated with PAI-1, MMP-2, and VEGF levels at baseline. PSTR at 2 years was also correlated with MMP-2 levels at 6 months and PAI-1 levels at baseline. Conclusions:The biomarkers PAI-1, MMP-2, and VEGF in peritoneal dialysis drainage fluid are positively correlated with PSTR in peritoneal dialysis patients during the 2-year period.

Dexmedetomidine protects acute myocardial ischemic injury in rats by inhibiting TXNIP / 中国药理学通报

Aim To investigate the protective effect of dexmedetomidine(DEX)on acute myocardial ischemia in rats and its mechanism.Methods Sixty SD rats were randomly divided into five groups: control group(C), model group(M), and dexmedetomidine 10, 25, 50 μg·kg

A comparative study of microwire electrode array with built-in and external reference electrodes / 中国应用生理学杂志

Objective: To compare the difference between the built-in and external reference electrode of microwire electrode array in the process of recording rat brain neuron firings, optimizing the production and embedding of the microwire electrode array, and providing a more affordable and excellent media tool for multi-channel electrophysiological real-time recording system. Methods: A 16 channel microwire electrode array was made by using nickel chromium alloy wires, circuit board, electrode pin and ground wires (silver wires). The reference electrode of the microwire electrode array was built-in (the reference electrode and electrode array were arranged in parallel) or external (the reference electrode and ground wire were welded at both ends of one side of the electrode), and the difference between the two electrodes was observed and compared in recording neuronal discharges in ACC brain area of rats. Experimental rats were divided into built-in group and external group, n=8-9. The test indicators included signal-to-noise ratio (n=8), discharge amplitude (n=380) and discharge frequency (n=54). Results: The microwire electrode array with both built-in and external reference electrodes successfully recorded the electrical signals of neurons in the ACC brain region of rats. Compared with the external group, the electrical signals of neurons in built-in group had the advantages of a higher signal-to-noise ratio (P＜0.05), a smaller amplitude of background signals and less noise interference, and a larger discharge amplitude(P＜0.05); there was no significant difference in spike discharge frequency recorded by these two types of electrodes (P＞0.05). Conclusion: When recording the electrical activity of neurons in the ACC brain region of rats, the microwire electrode array with built-in reference electrode recorded electrical signals with higher signal-to-noise ratio and larger discharge amplitude, providing a more reliable tool for multi-channel electrophysiology technology.

Clinical study on long-snake moxibustion plus Western medicine in treating chronic heart failure due to heart-kidney yang deficiency / 针灸推拿医学（英文版）

Objective: To observe the clinical efficacy of long-snake moxibustion plus Western medicine for chronic heart failure due to heart-kidney yang deficiency.Methods: A total of 80 patients were randomized into a control group and an observation group, with 40 cases in each group. The control group was treated with routine Western medicine, and the observation group was treated with long-snake moxibustion therapy on the basis of routine Western medicine. Left ventricular ejection fraction (LVEF), stroke volume (SV) and left ventricular end-diastolic diameter (LVEDd) were measured before and after treatment, and the heart function was assessed. The serum brain natriuretic peptide (BNP) level was measured, the 6 min walking distance was recorded, and the Minnesota living with heart failure questionnaire (MLHFQ) was assessed and scored. The serum galectin-3 (Gal-3) and soluble growth stimulation expressed gene 2 (sST2) protein levels were measured. Clinical efficacy was evaluated after treatment. Results: The total effective rate of the observation group was higher than that of the control group, and the difference between the two groups was statistically significant (P<0.05). After treatment, LVEF and LVEDd in both groups were significantly improved (all P<0.05), and LVEF, SV and LVEDd in the observation group were superior to those in the control group (all P<0.05). The heart function classification in both groups were improved after treatment (both P<0.05), and the heart function classification in the observation group was superior to that in the control group (P<0.05). The serum BNP level in both groups decreased (both P<0.05), and the serum BNP level in the observation group was lower than that in the control group (P<0.05). The 6 min walking distance and MLHFQ scores in both groups were improved (all P<0.05), and the 6 min walking distance and MLHFQ score in the observation group were superior to those in the control group (both P<0.05). The serum Gal-3 and sST2 levels in the observation group decreased significantly (both P<0.05), and all lower than those in the control group (both P<0.05). Conclusion: Long-snake moxibustion plus Western medicine has significant efficacy in treating chronic heart failure due to heart-kidney yang deficiency; it can improve heart function, reduce the serum BNP level, and improve the exercise endurance and quality of life in the patients. This may be related to the down-regulation of serum Gal-3 and sST2 levels.

Cytogenetic and molecular genetic analysis of Klinefelter syndrome in a fetus of Duchenne muscular dystrophy family / 中华围产医学杂志

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Effect of Zhongyi paste on inflammatory pain in mice by regulation of the extracellular regulated protein kinases 1/2– cyclooxygenase-2–prostaglandin E2 pathway

Background@#Zhongyi paste is a traditional Chinese medicine herbal paste that is externally applied to reduce inflammation and relieve pain. @*Methods@#An acute foot swelling inflammation model in C57BL/6J mice was established by carrageenan-induced pathogenesis. Zhongyi paste raised the pain threshold and also reduced the degree of swelling in mice with carrageenan-induced foot swelling. @*Results@#Analysis indicated that serum tumor necrosis factor-alpha, interleukin-1 beta, and prostaglandin E2 (PGE2) cytokine levels and PGE2levels in the paw tissue of the mice were decreased by Zhongyi paste treatment. The quantitative polymerase chain reaction and western blot results showed that Zhongyi paste downregulated the mRNA and protein expression of extracellular signal-regulated kinase 1/2 (ERK1/2), and cyclooxygenase-2 (COX-2), and also downregulated the mRNA expression of PGE2 . At the same time, the Zhongyi paste exerted a stronger effect as an external drug than that of indomethacin, which is an oral drug, and voltaren, which is an externally applied drug. @*Conclusions@#Our results indicated that Zhongyi paste is a very effective drug to reduce inflammatory swelling of the foot, and its mechanism of action is related to regulation of the ERK1/2–COX-2–PGE2 pathway.

Impact of maternal X chromosome aneuploidies on cell free DNA prenatal screening / 中华妇产科杂志

Objective@#To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.@*Methods@#After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.@*Results@#Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.@*Conclusions@#Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.

Impact of maternal X chromosome aneuploidies on cell free DNA prenatal screening / 中华妇产科杂志

Objective:To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.Methods:After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.Results:Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.Conclusions:Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.

Analysis on long-term quality of life and its influencing factors in patients with lung cancer / 中国综合临床

Objective:To explore the influencing factors of the long-term quality of life(QOL).Methods:According to the standard of diagnosis of primary lung cancer, a total of 74 patients with primary lung cancer were included in the study, who were first diagnosed by pathology and /or cytology and /or clinic from 1 January 2010 to 30 June 2016 in Tangshan Third Hospital, Heibei Province, and whose data were analyzed retrospectively.The Chinese version of FACT-L (4.0) QOL questionnaire was used to evaluate the QOL in 74 patients with primary lung cancer who survived more than three years.Multivariate regression statistical method was used to analyze the main influencing factors.Results:All patients with long-term survival lung cancer were treated by operation, their average QOL score was ( 126.62±13.29). Age, type of medical insurance and clinical stage had significant influence on QOL ( P<0.05). There was no significant difference in the total QOL scores between<50-year-old group(138.18±13.92) and ≥50-<60-year-old group(138.18±13.92, 137.04±12.82)(all P>0.05), but they were higher than that in ≥60-year-old group (115.28 ±13.11) (all P<0.05). The QOL of residents′ medical insurance patients (117.92 ±13.13) was lower than that of employees′ medical insurance patients (142.69±13.07) ( t=10.849, P=0.002). The QOL scores of stage Ⅰ and Ⅱ (140.34 ±12.88, 133.31±12.07) had no significant difference, but which were higher than that of stage III (96.84 ±13.46) ( P<0.05). Conclusion:Patients with long-term survival lung cancer after surgery could maintain a better QOL by early detection, timely surgery and constantly improving the medical security system to reduce the financial burden of patients.

Prenatal diagnosis of fetal nuchal fold thickening: a retrospective study of 17 cases / 中华围产医学杂志

Objective To investigate the prenatal diagnosis and genetic counseling of fetal nuchal fold (NF) thickening.Methods This study retrospectively analyzed 17 fetuses with increased NF detected by prenatal ultrasound examination in Peking Union Medical College Hospital,Peking Union Medical College & Chinese Academy of Medical Sciences from December 1,2016 to December 1,2017.All cases were divided into isolated (isolated group) or non-isolated increased NF group (non-isolated group) according to whether the fetus had concomitant ultrasonographic abnormalities or not.Karyotype and chromosomal microarray analysis (CMA) were performed on all cases.Clinical data,prenatal genetic testing results and pregnancy outcomes were analyzed.Results Of those twelve cases in the isolated group,two were terminated due to the identification of chromosomal abnormalities and pathogenic copy number variations (CNVs) and the fetal autopsy results were consistent with the prenatal diagnosis.The rest 10 pregnancies were all continued including one fetus carrying a variant of unknown significance,which was proved to be a paternal heredity by CMA,and nine without genetic abnormalities and all-these infants were healthy during follow-up.Among the five non-isolated cases,one was diagnosed as trisomy 21 by karyotyping and CMA,and the other four were found to have structural abnormalities under ultrasound scan,but without genetic abnormalities in karyotyping and CMA.And all the five pregnancies were terminated after genetic counseling and three of them chose whole exome sequencing (WES) for further test.One homozygous mutation in CHRNA 1 gene and one de novo mutation in SETD2 gene were found in two cases,respectively,while no abnormality was identified in the other one case.Conclusions Once increased NF were indicated by ultrasound examination,prenatal genetic testing should be offered to the patients,including CMA,regardless of other ultrasonographic abnormalities,and WES should also be offered when necessary.Considering a thickened NF is associated with increased risks of structural defects,a close follow-up with fetal echocardiography and ultrasound is required even the prenatal tests are normal.

Role of BoBs technology in early missed abortion chorionic villi / 中华妇产科杂志

Objective To investigate the value of bacterial artificial chromosome-on-beads(BoBs) technology in the genetic analysis of early missed abortion chorionic villi. Methods Early missed abortion chorionic villi were detected with both conventional karyotyping method and BoBs technology in Peking Union Medical Hospital from July 2014 to March 2015. Compared the results of BoBs with conventional karyotyping analysis to evaluate the sensitivity, specificity and accuracy of this new method. Results (1) A total of 161 samples were tested successfully in the technology of BoBs, 131 samples were tested successfully in the method of conventional karyotyping.(2)All of the cases obtained from BoBs results in(2.7 ± 0.6) days and obtained from conventional karyotyping results in (22.5 ± 1.9) days. There was significant statistical difference between the two groups(t=123.315, P<0.01).(3)Out of 161 cases tested in BoBs, 85(52.8%, 85/161)cases had the abnormal chromosomes, including 79 cases chromosome number abnormality, 4 cases were chromosome segment deletion, 2 cases mosaic. Out of 131 cases tested successfully in conventional karyotyping, 79(60.3%, 79/131)cases had the abnormal chromosomes including 62 cases chromosome number abnormality, 17 cases other chromosome number abnormality, and the rate of chromosome abnormality between two methods was no significant differences(P=0.198).(4)Conventional karyotyping results were served as the gold standard, the accuracy of BoBs for abnormal chromosomes was 82.4%(108/131), analysed the normal chromosomes (52 cases) and chromosome number abnormality (62 cases)tested in conventional karyotyping, the accuracy of BoBs for chromosome number abnormality was 94.7%(108/114). Conclusion BoBs is a rapid reliable and easily operated method to test early missed abortion chorionic villi chromosomal abnormalities.

Correlation analysis on liver function and serum markers of liver fibrosis in patients with fatty liver / 中国综合临床

Objective To analyze the changes of serum markers of liver function and liver fibrosis in patients with fatty liver,and to explore the relationship between them,so as to provide scientific basis for the prevention and treatment of fatty liver into hepatic fibrosis. Methods From January 1st,2015 to December 31st, 2015,one thousand three hundred and forty-six healthy cases were selected,and 361 cases of fatty liver were diagnosed by ultrasound. Liver function index of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) was detected by automatic biochemical analyzer. Hyaluronic acid (HA),laminin (LN),serum type Ⅲprocollagen peptide ( PC Ⅲ) and type Ⅳ collagen ( C-Ⅳ) were detected by enzyme-linked immunosorbent assay. The correlation between liver function and serum liver fibrosis indexes was analyzed by Pearson parameter analysis. Results The liver function index ALT,AST((69. 04±18. 72) U/L,(59. 78±15. 65)U/L) in fatty liver group were higher than those in the non-fatty liver group((25. 71±10. 25) U/L,(23. 68±8. 23) U/L),the differences were statistically significant ( t＝279. 283,388. 461,P＜0. 05) . Four serum fibrosis index HA,LN, PCⅢ,C-Ⅳ in the fatty liver group were (112. 64±21. 63) μg/L,(125. 85±27. 52) μg/L,(127. 28±29. 37) μg/L,(79. 38±18. 52) μg/L,respectively,which were higher than those in the non-fatty liver group ( (53. 98 ±16. 84) μg/L,(86. 31±20. 46) μg/L,(53. 31±18. 23) μg/L,(57. 26±15. 86 ) μg/L),the differences were statistically significant ( t＝727. 724,170. 432,941. 357,71. 169,P＜0. 001) . The correlation analysis of liver function and serum liver fibrosis indexes showed that ALT and AST were positively correlated with the fibrosis indexes HA,LN,PCⅢ( correlation coefficient r＝0. 230,0. 119,0. 370;0. 363,0. 361,0. 509,P＜0. 001),and which had no significant correlation with C-Ⅳ(P＞0. 05). Conclusion Liver function and serum liver fibrosis index can be used as the important basis for monitoring and diagnosis on the progression of fatty liver disease.