Clinical study of modified suspension reduction method combined with percutaneous vertebroplasty in the treatment of thoracolumbar osteoporotic compression fracture / 中国骨伤

OBJECTIVE@#To investigate the clinical effect of modified suspension reduction method combined with percutaneous vertebroplasty in the treatment of osteoporotic thoracolumbar compression fractures.@*METHODS@#From February 2020 to October 2021, 92 patients with thoracolumbar osteoporotic compression fracture were treated by percutaneous vertebroplasty. According to different treatment methods, they were divided into the observation group and the control group. The observation group was treated with modified suspension reduction and then percutaneous vertebroplasty, while the control group was treated with percutaneous vertebroplasty alone. The observation group (47 cases), including 20 males and 27 females, the age ranged from 59 to 76 years old with an average of (69.74±4.50) years old, fractured vertebral bodies:T10(2 cases), T11(7 cases), T12(19 cases), L1(14 cases), L2(5 cases);the control group(45 cases), including 21 males and 24 females, the age ranged from 61 to 78 years old with an average of (71.02±3.58) years old, fractured vertebral bodies:T10(3 cases), T11(8 cases), T12(17 cases), L1(12 cases), L2(5 cases);The leakage of bone cement were observed, the visual analogue scale (VAS), Oswestry lumbar dysfunction index (ODI), anterior vertebrae height (AVH), Cobb angle of kyphosis and the amount of bone cement injected before and after operation were recorded and compared between the two groups.@*RESULTS@#All patients were followed up, ranged from 6 to10 with an average of (8.45±1.73) months. Two patients ocurred bone cement leakage in observation group and 3 patients in control group. AVH of observation group increased (P<0.05) and Cobb angle of injured vertebrae decreased (P<0.05). Cobb angle of injured vertebrae and AVH of the control group were not significantly changed (P>0.05). Cobb angle of injured vertebrae of the observation group was lower than that of control group (P<0.05) and AVH was higher than that of the control group (P<0.05). In the observation group, VAS before operation and 1 week, 3 and 6 months after operation respectively were(7.32±1.05) scores, (3.56±1.18) scores, (1.83±0.67) scores, (1.27±0.34) scores, and ODI were(40.12±14.69) scores, (23.76±10.19) scores, (20.15±6.39) scores, (13.45±3.46) scores. In the control group, VAS before operation and 1 week, 3 and 6 months after operation respectively were(7.11±5.26) scores, (3.82±0.68) scores, (1.94±0.88) scores, (1.36±0.52) scores, and ODI were(41.38±10.23) scores, (25.13±14.22) scores , (20.61±5.82) scores, (14.55±5.27) scores . The scores of VAS and ODI after operation were lower than those before operation (P<0.05), but there was no significant difference between the two groups (P<0.05).@*CONCLUSION@#Modified suspension reduction method combined with PVP surgery for osteoporotic thoracolumbar compression fractures has achieved good clinical results, which can effectively relieve lumbar back pain, restore vertebral height, correct kyphosis, improve lumbar function and patients' quality of life.

Copy number variation analysis and outcomes of 1 658 fetuses with increased nuchal translucency / 中华围产医学杂志

Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.

The development and primary application of a deep learning convolutional neural network in the field of revision total hip arthroplasty CT segmentation / 中华骨科杂志

Objective:To develop a preoperative CT image segmentation algorithm based on artificial intelligence deep learning technology for total hip arthroplasty (THA) revision surgery, and to verify and preliminarily apply it.Methods:A total of 706 revision cases with clear CT data from April 2019 to October 2022 in Chinese PLA General Hospital were retrospectively analyzed, including 520 males, aged 58.45±18.13 years, and 186 females, aged 52.23±16.23 years. All of them were unilateral, and there were 402 hips on the left and 304 hips on the right. The transformer_unet convolutional neural network was constructed and trained using Tensorflow 1.15 to achieve intelligent segmentation of the revision THA CT images. Based on the developed three-dimensional planning system of total hip arthroplasty, an intelligent planning system for revision hip arthroplasty was preliminarily constructed. Dice overlap coefficient (DOC), average surface distance (ASD) and Hausdorff distance (HD) parameters were used to evaluate the segmentation accuracy of transformer_unet, full convolution network (FCN), 2D U-shaped Net and Deeplab v3 +, and segmentation time was used to evaluate the segmentation efficiency of these networks.Results:Compared with the FCN, 2D U-Net, and Deeplab v3+ learning curves, the transformer_unet network could achieve better training effect with less training amount.The DOC of transformer_unet was 95%±4%, the HD was 3.35±1.03 mm, and the ASD was 1.38±0.02 mm; FCN was 94%±4%, 4.83±1.90 mm, 1.42±0.03 mm; 2D U-Net was 93%±5%, 5.27±2.20 mm, and 1.46±0.02 mm, respectively. Deeplab v3+ was 92%±4%, 6.12±1.84 mm, 1.52±0.03 mm, respectively. The transformer_unet coefficients were better than those of the other three convolutional neural networks, and the differences were statistically significant (all P<0.05). The segmentation time of transformer_unet was 0.031±0.001 s, FCN was 0.038±0.002 s, 2D U-Net was 0.042±0.001 s, Deeplab v3+ was 0.048±0.002 s. The segmentation time of transformer_unet was less than that of the other three convolutional neural networks, and the difference was statistically significant ( P<0.05). Based on the results of previous studies, an artificial intelligence assisted preoperative planning system for THA revision surgery was initially constructed. Conclusion:Compared with FCN, 2D U-Net and Deeplab v3+, the transformer_unet convolutional neural network can complete the segmentation of the revision THA CT image more accurately and efficiently, which is expected to provide technical support for preoperative planning and surgical robots.

Aggressive versus controlled fluid resuscitation in acute pancreatitis: A systematic review and meta-analysis of randomized controlled trials / 中华医学杂志(英文版)

BACKGROUND@#Early fluid resuscitation is one of the fundamental treatments for acute pancreatitis (AP), but there is no consensus on the optimal fluid rate. This systematic review and meta-analysis aimed to compare the efficacy and safety of aggressive vs. controlled fluid resuscitation (CFR) in AP.@*METHODS@#The Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, and Web of Science databases were searched up to September 30, 2022, for randomized controlled trials (RCTs) comparing aggressive with controlled rates of early fluid resuscitation in AP patients without organ failure on admission. The following keywords were used in the search strategy: "pancreatitis," "fluid therapy,""fluid resuscitation,"and "randomized controlled trial." There was no language restriction. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework was used to assess the certainty of evidence. Trial sequential analysis (TSA) was used to control the risk of random errors and assess the conclusions.@*RESULTS@#A total of five RCTs, involving 481 participants, were included in this study. For primary outcomes, there was no significant difference in the development of severe AP (relative risk [RR]: 1.87, 95% confidence interval [CI] 0.95-3.68; P = 0.07; n = 437; moderate quality of evidence) or hypovolemia (RR: 0.98, 95% CI: 0.32-2.97; P = 0.97; n = 437; moderate quality of evidence) between the aggressive and CFR groups. A significantly higher risk of fluid overload (RR: 3.25, 95% CI: 1.53-6.93; P <0.01; n = 249; low quality of evidence) was observed in the aggressive fluid resuscitation (AFR) group than the controlled group. Additionally, the risk of intensive care unit admission ( P = 0.02) and the length of hospital stay ( P <0.01) as partial secondary outcomes were higher in the AFR group. TSA suggested that more studies were required to draw precise conclusions.@*CONCLUSION@#For AP patients without organ failure on admission, CFR may be superior to AFR with respect to both efficacy and safety outcomes.@*REGISTRATION@#PROSPERO; https://www.crd.york.ac.uk/PROSPERO/ ; CRD 42022363945.

Genetic analysis of two children with developmental delay and intellectual disability / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two patients with developmental delay and intellectual disability.@*METHODS@#Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions.@*RESULTS@#Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents.@*CONCLUSION@#The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.

Effect of a space stabilizing device on the capacity for osteogenesis in the bone-grafted area / 口腔医学

Objective@#To study the effect of a space stabilizing device on the capacity for osteogenesis in the bone-grafted area. @*Methods@#Patients with anterior teeth defects as well as labial alveolar ridge defects were randomly divided into two groups: the experimental group was treated using a space stabilization device after guided bone regeneration whereas the control group received regular guided bone regeneration. The CBCT data was analyzed prior to, immediately and 6 months after procedure to compare the osteogenesis with or without the device.@*Results@#Seventeen bone-grafted sites were examined(7 in the experimental group and 10 in the control group). At 2 mm and 4 mm below the alveolar ridge, the horizontal bone resorption rate in the experimental group was significantly lower than the corresponding level in the control group(P=0.001). The horizontal bone resorption rate at 2 mm below the alveolar ridge of each group was significantly higher than that at 4 mm below the alveolar ridge in corresponding groups(P=0.003). @*Conclusion@#The space stabilizing device used in this study has a positive clinical impact on preserving space stability and minimizing bone resorption.

Design for online monitoring of occupational hazard factors based on internet of things / 中华劳动卫生职业病杂志

At present, there are disadvantages with the detection for occupational hazard factors, such as insufficient monitoring data, poor timeliness, weak representativeness, long detection cycles, and inability to continuously monitor. Taking advantages of internet of things technology, an online monitoring platform for occupational hazard factors has been designed. The platform collects the concentration (intensity) of hazard factors through sensors, transmits the occupational hazards data collected online in realtime. The online monitoring cloud center for occupational hazard factors processes and analyzes online monitoring data in realtime, stores the hazard factors data to form database management, and provides user application services to form an intelligent online monitoring service model for occupational hazard factors. Based on the online monitoring platform of occupational hazard factors, multi-level government health supervision departments and employers can grasp the status of hazard factors in real time, which is conducive to improving the level of occupational hazard supervision.

Analysis of noise reduction measures in a noise workshop handover control room / 中华劳动卫生职业病杂志

Objective: To explore the sound insulation, sound absorption and other noise reduction transformation methods in a noise workshop handover control room. Methods: In December 2021, through the occupational health investigation and on-site testing of the handover control room of a noise workshop, the causes of excessive noise were analyzed, and the transformation design scheme to reduce noise was proposed and the effect was analyzed. Results: Before the transformation, the peak frequency band noise intensity of the noise workshop handover control room was 112.8 dB (A), and the peak frequency was 1000 Hz. After noise reduction, the theoretical calculated control value was 61.0 dB (A), and the measured noise intensity was 59.8 dB (A) . Conclusion: The noise intensity of the handover control room is reduced after noise reduction, which is in line with the contact limit requirements of the control room in GBZ 1-2010 "Hygienic Standards for the Design of Industrial Enterprises", and has reference significance for noise control engineering.

Analysis of a fetus with unbalanced translocation derived from a balanced t(6;14) maternal translocation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic characteristics of a fetus with a high risk by maternal serum screening during the second trimester.@*METHODS@#Genetic counseling was provided to the pregnant woman on March 22, 2020 at Henan Provincial People's Hospital. G-banded chromosomal karyotyping and array comparative genomic hybridization (aCGH) were carried out on the amniotic fluid sample and peripheral blood samples from the couple.@*RESULTS@#The fetus and the pregnant woman were respectively found to have a 46,XX,der(6)t(6;14)(q27;q31.2) and 46,XX,t(6;14)(q27;q31.2) karyotype, whilst the husband was found to have a normal karyotype. aCGH analysis has identified a 6.64 Mb deletion at 6q26q27 and a 19.98 Mb duplication at 14q31.3q32.33 in the fetus, both of which were predicted to be pathogenic copy number variations. No copy number variation was found in the couple.@*CONCLUSION@#The unbalanced chromosome abnormalities in the fetus have probably derived from the balanced translocation carried by the pregnant woman. aCGH can help to determine the types of fetal chromosome abnormalities and site of chromosomal breakage, which may facilitate the prediction of fetal outcome and choice for subsequent pregnancies.

Discussion on Collection of Clinical Questions in International Clinical Practice Guidelines of Acupuncture-Moxibustion / 中国结合医学杂志

The clinical questions of acupuncture-moxibustion (Acup-Mox) guidelines are complicated, including not only the curative effect of Acup-Mox intervention measures, but also the operational elements of Acup-Mox. This paper aimed to put forward the idea and process of collecting clinical questions in developing international acupuncture clinical practice guidelines. The experience was collected and the idea of collecting clinical questions of Acup-Mox was formed through expert consultation and discussion in combination with expert opinions. Based on the characteristics of Acup-Mox discipline. This paper put forward the thinking of collecting elements of clinical questions following the intervention-population-outcome-control (I-P-O-C) inquiry process, according to the discipline of Acup-Mox. It was emphasized that in the process of collecting clinical questions, "treatable population" and "alleviable outcome indicators" for a specific Acup-Mox intervention with certain therapeutic effect should be focused on, so as to highlight the pertinence of clinical questions of Acup-Mox guidelines in terms of population and outcome elements.

Prenatal genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for fetus with bilateral lateral ventriculomegaly.@*METHODS@#Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship.@*RESULTS@#The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy.@*CONCLUSION@#The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.

Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated.@*RESULTS@#Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting).@*CONCLUSION@#The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.

Differences in Contents and Formation Methods of Clinical Questions in Chinese and Korean Clinical Practice Guidelines of Acupuncture-Moxibustion: Scoping Review / 中国结合医学杂志

OBJECTIVE@#To analyze the differences in the needs of users and the value orientation of clinical practice guidelines (CPGs) by comparing the contents and formation methods of clinical questions in Chinese and Korean CPGs of acupuncture-moxibustion (Acup-Mox).@*METHODS@#The full text of CPGs was systematically searched from the official websites of Chinese and Korean traditional medicine societies and Acup-Mox associations, with the topic "Acup-Mox for treating diseases" and the retrieval time up to September 28, 2022. Two researchers screened the CPGs independently, and extracted the guidelines' topics, content, quantity and formation methods of clinical questions. The quantitative data were collected by counting the frequency, and the qualitative data were classified and described by thematic analysis.@*RESULTS@#A total of 29 guidelines were included in this study, including 20 Chinese guidelines (305 questions) and 9 Korean guidelines (223 questions). The differences lie in the aspects of content and diversity, and formation method. As for content and diversity, Chinese guidelines focused mainly on the questions related to treatment such as the operation of specific intervention (86, 28.2%), efficacy of intervention (78, 25.6%), and also involving questions in diagnosis, prevention, and prognosis. While the clinical questions in Korean guidelines were concentrated to efficacy of intervention (218, 97.8%). As for formation method, in Chinese guidelines, questions were usually collected directly from clinicians, and then determined and optimized by experts. In Korean guidelines, frequently used clinical Acup-Mox interventions would be screened first. Then the expert group would set up corresponding intervention control measures so as to form clinical questions related to treatment efficacy.@*CONCLUSIONS@#The differences reflect the different needs of clinical practitioners, and the different aims or concepts in developing Acup-Mox guidelines between China and South Korea. Chinese guidelines emphasized promoting operation protocols and techniques of Acup-Mox for practical use, while Korean guidelines emphasized promoting the frequently used clinical intervention therapies. It is speculated that the guidelines from these two countries would play different roles in guiding clinical operation and supporting medical decision. In terms of formation methods of clinical questions, it is suggested to attach importance to optimizing process in formatting clinical questions to improve the clinical applicability of CPGs of Acup-Mox.

Repairing effect of sulodexide on diabetic retinopathy and the regulation of MAPK pathway in rats / 解剖学报

[ Abstract] Objective To study the effect of sulodexide on the repair of diabetic retinopathy and the regulation of MAPK pathway in rats. Methods Totally 72 rats were randomly divided into normal control group, diabetic retinopathy group, low, middle and high dose of sulodexide group and metformin hydrochloride group. Except normal control group, other rats were intraperitoneally injected with streptozotocin to establish the rat model of diabetic retinopathy. Rats in the low, middle and high dose sulodexide groups were given sulodexide by intragastric administration of 10 mg / kg,20 mg / kg and 40 mg / kg, respectively. Metformin hydrochloride group was given metformin hydrochloride of 200 mg / kg, once a day for 12 weeks. The levels of fasting blood glucose (FBG), glycosylated hemoglobin (HbA1c) and serum levels of advanced glycation end products (AGEs), interleukin-6 (IL-6), IL-1β, and levels of glucose transporter 1 (GLUT-1), glucose transporter 3(GLUT-3), superoxide dismutase (SOD) and malondialdehyde (MDA) in retina were detected. The levels of p38 MAPK and phosphorylated p38 MAPK (p-p38 MAPK) in retina were detected by immunohistochemistry and Western blotting. Retinal pathological changes and ganglion cell count were examined by HE staining. Results The levels of FBG and HbA1c, serum AGEs, IL-6, IL-1 β, GLUT-1, GLUT-3, MDA and p38 MAPK mRNA, p38 MAPK, p-p38 MAPK / p38 MAPK and immunohistochemical integral optical density of retina in sulodexide group were significantly lower than those in diabetic retinopathy group (P < 0. 05), while the SOD level and ganglion cell number in retinal tissue were significantly higher than those in diabetic retinopathy group (P < 0. 05) . Conclusion Sulodexide can regulate blood glucose level and retinal glucose metabolism in diabetic retinopathy rats, and repair retinal pathological damage, and its mechanism may be related to the regulation of MAPK pathway.

Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.

Interpretation of China national standard Nomenclature and Location of Meridian Points (GB/T 12346-2021) / 中国针灸

To cooperate with the popularization and application of the China national standard Nomenclature and Location of Meridian Points (GB/T 12346 -2021), this study introduced the differences between the 2021 version and the 2006 version, and explained the principles of the revision and the changes in the standard name, terminology, definition and the expression of meridian points' body regions. In addition, the revision of the specific contents, including the adjustment of "bone proportional cun" of several meridian points and the revision basis of location of some meridian points were explained.

Analysis of the endoscopic screening results of Beijing-Tianjin-Hebei Region Gastrointestinal Endoscopy Medical Association from 2016 to 2020 / 中华消化内镜杂志

Objective:To evaluate the development and application of gastrointestinal endoscopy technology in Beijing-Tianjin-Hebei (BTH) region from 2016 to 2020, and the impact of the corona virus disease 2019 (COVID-19) epidemic on gastrointestinal endoscopy screening and lesion detection rate of medical institutions.Methods:Data of gastroscopy and colonoscopy cases from 26 cooperative institutions in BTH Region Gastrointestinal Endoscopy Medical Association from January 2016 to December 2020 were collected by questionnaire. The number of gastrointestinal endoscopy, the detection of main lesions (including upper gastrointestinal malignant tumors, early gastric cancer and colon cancer), and the number of endoscopic treatment were retrospectively analyzed by year.Results:From 2016 to 2019, the number of gastroscopy and colonoscopy showed a yearly increasing trend with an annual growth rate of over 10%. Compared with 2019, the number of gastroscopy and colonoscopy decreased by 10.86% and 8.29%, respectively, in 2020 due to the impact of the epidemic. The annual detection rates of upper gastrointestinal malignant tumors, early gastric cancer and colon cancer were on a rise, from 7.22%, 1.49% and 8.98% in 2016 to 9.87%, 2.71% and 12.04% in 2020, respectively. The number of gastroscopic mucosal resection, submucosal dissection and colonoscopic endoscopic submucosal dissection increased yearly, from 2 132, 300 and 217 cases in 2016 to 5 466, 872 and 560 cases in 2020, respectively.Conclusion:The Medical Association has promoted the expansion of endoscopic screening and the application of endoscopic treatment techniques, resulting in a continuous increase in the endoscopy detection rate and early cancer diagnosis rate in the BTH region. The sharp decrease of gastrointestinal endoscopy procedures and the increase in the lesion detection rate in 2020 reflect the impact of epidemic COVID-19 on detection of gastrointestinal cancers.

Genetic analysis and prenatal diagnosis of intellectual disability caused by Xq25 microduplication in a pedigree / 中华围产医学杂志

Objective:To analyze the clinical and genetic characteristics of a 27-year-old male patient with intellectual disability and his pedigree to provide a reference for genetic counseling and prenatal diagnosis.Methods:G-banding and array comparative genomic hybridization (aCGH) were performed to analyze the karyotypes and genomic copy number variations of the proband (Ⅲ-1) and his family members. Based on the results, prenatal diagnosis was performed for one pregnant woman (Ⅲ-2) in the pedigree who is the sister of the proband.Results:All karyotyping were normal in the family members, while aCGH results showed a 1 533 kb microduplication in the Xq25 region of the proband, his mother (Ⅱ-3), his uncle (Ⅱ-2), and his sister (Ⅲ-2), which was confirmed to be pathogenic. The proband and his uncle presented with intellectual disability, bradylalia, and facial dysmorphism. In contrast, his mother and sister showed normal phenotypes. His sister's fetal karyotype and aCGH results were normal, and the pregnancy continued. A male baby (Ⅳ-1) was delivered vaginally at term and showed no physical or intellectual abnormalities during a 46-month follow-up.Conclusions:Xq25 microduplication might be the cause of intellectual disability in the proband. STAG2 is probably the essential gene in Xq25 region.

CERKL attenuates blue light-induced oxidative stress in human retinal pigment epithelial cells by activating the SIRT1/E2F1 axis / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To investigate whether ceramide kinase-like protein(CERKL)alleviates oxidative stress injury of retinal pigment epithelial(RPE)cells induced by blue light via activating the silent information regulator 1(SIRT1)/E2F transcription factor 1(E2F1)axis. METHODS:Cultured human retinal pigment epithelial-19(ARPE-19)cells were irradiated with blue light to observe the morphological changes, and the expression of CERKL was detected by PCR and Western blot. ARPE-19 cells were transfected with siRNA-CERKL and pcDNA3.1-CERKL respectively. After exposure to blue light, cell viability was determined by MTT assay, apoptosis was detected by TUNEL assay, content of oxidative stress markers and the expression of SIRT1/E2F1 axis was analyzed. Then siRNA-SIRT1 was transfected into ARPE-19 cells, and the oxidative stress damage of ARPE-19 cells under blue light irradiation was detected again.RESULTS:ARPE-19 cells gradually contracted into spheres and appeared vacuoles after exposure to blue light. Blue light irradiation led to the increase of CERKL expression level(P<0.05), meanwhile, the rate of cell viability was decreased(P<0.05), the rate of the apoptosis was increased(P<0.05), contents of reactive oxygen species, malondialdehyde and 8-hydroxydeoxyguanosine were increased(P<0.05). Silence of CERKL aggravated this phenomenon, while up-regulation of CERKL could alleviate this change(P<0.05). Up-regulation of CERKL also activated the expression of SIRT1 and promoted the deacetylation of E2F1(P<0.05). Silencing SIRT1 could reverse the alleviating effect of up-regulating CERKL on oxidative stress injury of ARPE-19 cells induced by blue light(P<0.05). CONCLUSION: CERKL can reduce oxidative stress damage of ARPE-19 cells induced by blue light via activating SIRT1 expression and promoting the deacetylation of E2F1.

Predictive value of mucosal vascular pattern under narrow-band imaging colonoscopy in colonic epithelial proliferation of patients with ulcerative colitis / 中华消化杂志

Objective:To investigate the predictive value of mucosal vascular pattern (MVP) in colonic epithelial proliferation of patients with ulcerative colitis (UC) under narrow-band imaging (NBI) colonoscopy.Methods:From December 1, 2012 to January 31, 2015, 42 patients with UC visiting Peking Union Medical College Hospital and receiving NBI colonoscopy were selected. The images of 119 colorectal lesions of all the patients under the conventional white light and NBI endoscopy were collected and at least one biopsy of each lesion was obtained for histological assessment. All the endoscopic images were randomly allocated to one endoscopist (associated chief physician) for the MVP and the Mayo endoscopic score (MES) assessment. The degree of mucosal inflammation was graded from 0 to 4 according to the histological colitis score. The degree and distribution of Ki-67 expression were evaluated by immunohistochemical staining. Student-Newman-Keuls (SNK)- q test and Spearman rank correlation analysis were used for statistical analysis. Results:Under NBI colonoscopy, the MVP of patients with UC was divided into clear type, obscure type and absent type. According to the morphology of mucosal glandular duct, the absent type was divided into crypt opening subtype and villous subtype. There was a positive correlation between MVP under NBI mode and the MES under white light mode ( r=0.80, P<0.001). The Ki-67 staining indexes of MVP obscure type, absent type, crypt opening subtype and villous subtype of absent type were all higher than that of MVP clear type (30.3±12.8, 45.9±12.5, 45.5±12.1 and 46.3±13.1 vs. 15.6±7.3), and the differences were statistically significant (SNK- q test, all P<0.001); and the Ki-67 staining indexes of MVP absent type, crypt opening subtype and villous subtype of MVP absent type were all higher than that of MVP obscure type, and the differences were statistically significant (SNK- q test, all P<0.001). There was a positive correlation between the MVP type under NBI colonoscopy and the distribution of Ki-67 expression ( r=0.49, P<0.001). The Ki-67 staining indexes of inflammation grade 2, 3 and 4 were higher than that of grade 1 (28.8±10.9, 40.2±11.6 and 49.5±10.3 vs. 17.1±8.4), and the difference was statistically significant (SNK- q test, all P<0.001); the Ki-67 staining indexes of inflammation grade 3 and 4 were higher than that of grade 2, and Ki-67 staining index of inflammation grade 4 was higher than that of grade 3, and the differences were statistically significant (SNK- q test, all P<0.001). The distribution of Ki-67 expression was positively correlated with the degree of histological inflammation ( r=0.56, P<0.001). Conclusions:The MVP under NBI colonoscopy may indirectly predict the colonic epithelial proliferation of patients with UC, which may be closely related to the degree of mucosal inflammation.