Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China

Although non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patients, and the PPV and follow-up data were evaluated to determine its clinical value. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 chromosomal abnormalities, with a PPV of 45.1%. PPV for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosomal aneuploidies (SCAs), and copy number variations (CNVs) were 78.9, 35.3, 22.2, 36.9, and 32.9%, respectively. The PPVs for T21, T18, and T13 increased with age, whereas the PPVs for SCAs and CNVs had little correlation with age. The PPV was significantly higher in patients with advanced age and abnormal ultrasound. The NIPT results are affected by population characteristics. NIPT had a high PPV for T21 and a low PPV for T13 and T18, and screening for SCAs and CNVs showed clinical significance in southern China.

Noise exposure and its impact on health in an auto parts manufacturing enterprise / 中华劳动卫生职业病杂志

Objective: To learn about the noise exposure and health status of workers and analyze factors that may affect the health outcomes of workers in an auto manufacturing enterprise in Tianjin City. Methods: In September 2020, occupational hygiene survey, noise exposure level detection and occupational health examination data collection were carried out in an auto parts manufacturing enterprise. Chi square test and unconditional logistic regression analysis were used to analyze the health effects of noise exposure and hearing loss of 361 noise exposure workers. Results: The rates of over-standard noise exposure, hearing loss and hypertension were 69.39% (34/49) , 33.24% (120/361) and 11.36% (41/361) , respectively. There were upward trends on age and noise-working years for hearing loss and hypertension rates (χ(2)=-5.95, -6.16, -2.81, -2.74, P<0.05) . Unconditional logistic regression analysis showed that age>35 years old, noise exposure length of service >10 years and noise L(EX, 8 h)>85 dB (A) were risk factors for hearing loss (OR=3.57, 95%CI: 1.09, 11.75; OR=4.05, 95%CI: 1.97, 8.25; OR=1.75, 95%CI: 1.00, 3.05; P=0.036, 0.001, 0.047) . Conclusion: This company has a high rate of job noise exceeding the standard, and noise-exposed workers have more serious hearing loss. Age, noise exposure and high noise exposure are risk factors for hearing loss.

Experimental research on forecasting index of biological image aerobic exercise analysis of artificial neural network / Pesquisa experimental sobre índice de previsão de imagem biológica análise de exercício aeróbio de rede neural artificial / Investigación experimental sobre índice de pronóstico de imágenes biológicas análisis de ejercicio aeróbico de redes neuronales artificiales

ABSTRACT Objective: The paper uses artificial neural network images to explore the effects of aerobic exercise on the gamma rhythm of theta period in the awake hippocampal CA1 area of APP/PS1/tau mice and the low-frequency gamma rhythm of the sleep state hippocampal CA1 area SWR period. Methods: Clean grade 6-month-old APP/PS1/tau mice were randomly divided into quiet group (AS) and exercise group (AE), C57BL/6J control group mice were randomly divided into quiet group (CS) and exercise group (CE). The AE group and the CE group performed 12-week treadmill exercise, 5d/week, 60min/d, the first 10min exercise load was 12m/min, the last 50min was 15m/min treadmill slope was 0°. Eight-arm maze detection of behavioral changes in mice; multi-channel in vivo recording technology to record the electrical signals of the awake state and sleep state in the hippocampal CA1 area, MATLAB extracts the awake state theta period and sleep state SWR period, multi-window spectrum estimation method Perform time-frequency analysis and power spectral density analysis. Results: 12 weeks of aerobic exercise can significantly improve the working memory and reference memory of the AS group, increase the gamma energy in theta period of the awake hippocampus CA1 area and the low-frequency gamma energy in the sleep state CA1 area SWR period. Conclusions: Aerobic exercise can improve the neural network state of the AD model and increase the gamma energy in theta period of the hippocampus CA1 area, and the low-frequency gamma energy in the SWR period is one of the neural network mechanisms for its overall behavioral improvement. Level of evidence II; Therapeutic studies - investigation of treatment results.

RESUMO Objetivo: o artigo usa imagens de redes neurais artificiais para explorar os efeitos do exercício aeróbio no ritmo gama do período teta na área CA1 do hipocampo desperto de camundongos APP/PS1/tau e o ritmo gama de baixa frequência da área CA1 do hipocampo do estado de sono Período SWR. Métodos: Camundongos APP/PS1/tau de grau limpo de 6 meses de idade foram divididos aleatoriamente em grupo quieto (AS) e grupo de exercício (AE), os camundongos do grupo controle C57BL/6J foram divididos aleatoriamente em grupo quieto (CS) e grupo de exercício (CE). O grupo AE e o grupo CE realizaram 12 semanas de exercício em esteira, 5d/semana, 60min/d, a primeira carga de exercício de 10min foi de 12m/min, a última de 50min foi de 15m/min e a inclinação da esteira foi de 0 °. Detecção de labirinto de oito braços de mudanças comportamentais em camundongos; tecnologia de gravação in vivo multicanal para registrar os sinais elétricos do estado de vigília e do estado de sono na área CA1 do hipocampo, MATLAB extrai o período de tempo teta do estado de vigília e o período de tempo SWR do estado de sono, método de estimativa de espectro de múltiplas janelas. e análise de densidade espectral de potência. Resultados: 12 semanas de exercícios aeróbicos podem melhorar significativamente a memória de trabalho e a memória de referência do grupo AS, aumentar a energia gama no período teta da área CA1 do hipocampo acordado e a energia gama de baixa frequência na área CA1 do estado de sono período SWR. Conclusões: O exercício aeróbico pode melhorar o estado da rede neural do modelo AD e aumentar a energia gama no período teta da área CA1 do hipocampo e a energia gama de baixa frequência no período SWR é um dos mecanismos da rede neural para seu comportamento geral. Nível de evidência II; Estudos terapêuticos- investigação dos resultados do tratamento.

RESUMEN Objetivo: El artículo utiliza imágenes de redes neuronales artificiales para explorar los efectos del ejercicio aeróbico en el ritmo gamma del período theta en el área CA1 del hipocampo despierto de ratones APP/PS1/tau y el ritmo gamma de baja frecuencia del área CA1 del hipocampo en estado de sueño. Período de ROE. Métodos: Se dividieron aleatoriamente ratones APP/PS1/tau de 6 meses de edad de grado limpio en grupo tranquilo (AS) y grupo de ejercicio (AE), los ratones del grupo de control C57BL/6J se dividieron aleatoriamente en grupo tranquilo (CS) y grupo de ejercicio (CE). El grupo de EA y el grupo de EC realizaron 12 semanas de ejercicio en cinta rodante, 5 días a la semana, 60 min/d, la primera carga de ejercicio de 10 min fue de 12 m/min, los últimos 50 min fueron de 15 m/min y la pendiente de la cinta fue de 0 °. Detección en laberinto de ocho brazos de cambios de comportamiento en ratones; tecnología de grabación in vivo multicanal para registrar las señales eléctricas del estado despierto y del estado de sueño en el área CA1 del hipocampo, MATLAB extrae el período de tiempo theta del estado despierto y el período de tiempo de SWR del estado de suspensión, método de estimación de espectro de múltiples ventanas Realizar análisis de tiempo-frecuencia y análisis de densidad espectral de potencia. Resultados: 12 semanas de ejercicio aeróbico pueden mejorar significativamente la memoria de trabajo y la memoria de referencia del grupo AS, aumentar la energía gamma en el período theta del área CA1 del hipocampo despierto y la energía gamma de baja frecuencia en el período SWR del área CA1 del estado de sueño. Conclusiones: El ejercicio aeróbico puede mejorar el estado de la red neuronal del modelo AD y aumentar la energía gamma en el período theta del área del hipocampo CA1 y la energía gamma de baja frecuencia en el período SWR es uno de los mecanismos de la red neuronal para su comportamiento general. Nivel de evidencia II; Estudios terapéuticos- investigación de los resultados del tratamiento.

Prevalence of dyslipidemia and its influencing factors in rural residents aged 40 years and over in Liaoning Province / 预防医学

Objective@#To understand the prevalence and influencing factors of dyslipidemia in the residents aged 40 years and over in the rural areas of Liaoning Province,so as to provide basis for the development of targeted prevention and control measures.@*Methods@# From September 2017 to May 2018,by stratified cluster random sampling method,the residents aged 40 years or above from 19 villages in Liaoning Province were selected. Demographic features,height,weight,blood pressure and lipid level were collected. A logistic regression model was applied to explore the influencing factors for dyslipidemia.@*Results@#A total of 10 926 residents were recruited,with an average age of （59.97±10.08）years. The crude and standardized prevalence rate of dyslipidemia was 30.96% and 29.68%. The results of multivariate logistic regression analysis showed that women（OR=1.323,95%CI：1.189-1.473）,50-69 years old（OR：1.238-1.333,95%CI：1.075-1.523）,a high school education or below（OR：0.585-0.635,95%CI：0.439-0.842）,hypertension（OR=1.398,95%CI：1.273-1.534）,diabetes（OR=2.137,95%CI：1.918-2.381）,overweight or obesity（OR=2.101,95%CI：1.916-2.303）, meat-based meals（OR=1.306,95%CI：1.144-1.492）and vegetables intake less than 5 days a week（OR：1.169-1.387,95%CI：1.004-1.796） were associated with dyslipidemiais.@*Conclusions @# The prevalence rate of dyslipidemia was 30.96% in the rural residents aged 40 years and over in Liaoning Province. People who were females,who were 50-69 years old,and who suffered from hypertension,diabetes,overweight or obese,might take their lipid levels into consideration.

Intervention effect of group counseling on the self-esteem of impoverished undergraduates:a therapy based on acceptance and commitment therapy and music therapy / 中国学校卫生

Objective@#To investigate the effects of group counseling based on acceptance and commitment therapy and music therapy on the self-esteem of impoverished undergraduates.@*Methods@#Through a selective procedure of publicizing, recruiting and interviewing, 48 impoverished undergraduates were randomly assigned to the experimental group (n=24) and the control group(n=24). Experimental group received group counseling based on acceptance and commitment therapy and music therapy, while the control group received no intervention, the control group will receive intervention next term. All of the participants completed the Self-Esteem Scale(SES), the Perceived Social Support Scale(PSSS), the Self-Consistency and Congruence Scale(SCCS) , and Simplified Coping Style Questionnaire (SCSQ) before and after intervention.@*Results@#After intervention, the average scores of SES, SCCS,and PSSS in the experimental group (35.29±4.29, 102.13±8.30, 67.54±6.81) significantly increased(28.76±3.98, 92.34±6.35, 56.00±8.59)(t=9.31, 5.21, 7.15, P<0.05). While there were no statistical changes in SES, SCCS, and PSSS scores in the control group after intervention(t=1.15, 0.07, 1.59, P>0.05).@*Conclusion@#Group counseling based on the acceptance and commitment therapy and music therapy is effective on improving the self-esteem, self-consistency and congruence, and perceived social support in impoverished undergraduates.

Preventive effect of water extract of danshen on degeneration of osteoarticular cartilage induced by monosodium iodocaetate in rats / 中国药理学通报

Aim: To explore the preventive effect of water extract of Danshen (DWE) on degeneration of osteoarticular cartilage induced by monosodium iodocaetate (MIA). Methods: Twenty-seven female SD ratswere randomly divided into sham group, MIA group and DWE group. Rats in sham group were injected a single intra-articular of saline in left knee, while rats in MIA and DWE group were injected a single intra-articular of MIA(60 g L-1). The rats were administered on the second day after the injection of MIA. The rats in sham group and MIA group were given 5 mL · kg-1 of saline, and the rats in DWE group received 5 mL · kg-1 of DWE every day for six weeks. At the end of the experiment, the serum was tested for MMP-13, IL- 6 and TNF-α by enzyme-linked immunosorbent assay (ELISA). The left knee femur of rats was taken for safranine O-fixed green staining and tibia was collected for Micro-CT assay. Results: Compared with sham group, the serum level of MMP-13 and the pathological score of the medial femoral articular cartilage in MIA group significantly increased (P < 0. 01), while cartilage thickness and cartilage volume of the medial tibial articular cartilage markedly decreased (P < 0. 01). Compared with MIA group, the serum level of MMP-13 and the pathological score of the medial femoral articular cartilage in DWE group significantly decreased (P <0. 05,P <0. 01), while cartilage thickness and cartilage volume of the medial tibial articular cartilage increased (P < 0. 01, P < 0. 05). Conclusion: DWE has a protective effect on degeneration of osteoarticular cartilage induced by monosodium iodocaetate.

Vancomycin-induced severe thrombocytopenia in a young infant

Abstract Vancomycin is a first-line drug for treating methicillin-resistant Staphylococcus aureus. Thrombocytopenia is a rare adverse reaction to vancomycin treatment, and there are no reports of vancomycin-induced thrombocytopenia (VIT) in infants. We describe the case of a 3-month-old girl who was diagnosed with purulent meningitis. After 13 days of treatment with vancomycin, her platelet count reduced to 8 × 109/L. Vancomycin was discontinued, and intravenous methylprednisolone was administered. The platelet count returned to normal after 4 days. Patients, especially young children, receiving vancomycin for a long clinical course should undergo careful monitoring of laboratory indicators and blood tests.

Dilemmas and Countermeasures of the Implementing Remote Medical Insurance Policy Based on the Analysis of Policy Network Perspective / 中国卫生经济

China's remote medical insurance policy included 5 different types of network subjects(policy community,intergovernmental network,producer network,professional network and issue network).The separate interests among competing stakeholders were the main obstacles to the implementation of remote medical insurance policy.The problems mainly reflected as sector interest disputed in policy community;the fragmentation of intergovernmental network;misallocation of the power and responsibilities between policy community and intergovernmental network;interest alliances and conflicts between intergovernmental network and producer network;the weak voice and insufficient action of issue network.Therefore,countermeasures were put forward to implement the remote medical insurance policy:firstly,adjust the distribution of responsibility between policy community and intergovernmental network,public interest oriented;secondly,eliminate local protectionism among the intergovernmental network and unify the relevant medical insurance policies;thirdly,improve the public policy participation system and strengthen the discourse power of issue network;lastly,build an open policy network and promote policy actors to collaborate with each other.

Pyruvate dehydrogenase activity and pyruvate dehydrogenase kinase 4 expression in skeletal muscle of end-stage renal disease patients / 上海交通大学学报（医学版）

Objective·To explore the changes of pyruvate dehydrogenase (PDH) activity and pyruvate dehydrogenase kinase 4 (PDK4) expression in the end-stage renal disease (ESRD) patients' skeletal muscles. Methods·Skeletal muscle samples were collected from non-chronic kidney disease (non-CKD) patients and ESRD patients. PDH activity was detected by ELISA assay. Real-time qPCR was performed to examine gene transcription levels of PDK1-PDK4 and PDH subunits.Western blotting analysis was used to detect protein expression levels of PDK1 and PDK4. Results·There were no demographic differences between two groups of patients. Plasma creatinine and urea nitrogen were significantly elevated in ESRD group (both P<0.05), while estimated glomerular filtration rate, hemoglobin and plasma albumin in ESRD group were significantly lower than those in non-CKD group (all P<0.05).Skeletal muscle PDH activity in ESRD group was markedly lower than that in non-CKD group(P=0.014).There were no differences in PDK1-PDK4 and PDH subunits mRNA transcription levels between ESRD and non-CKD group.PDK4 protein expression was significantly higher than that in non-CKD group (P=0.000). Conclusion·The decreased PDH activity in ESRD patients' skeletal muscle may be related to up-regulation of PDK4.

Prevalence of HIV and malaria: a cross-sectional study on Bioko Island, Equatorial Guinea

Malaria and HIV are two of the most severe public health problems in Africa. However, epidemiological data on Bioko Island is scarce. To investigate the prevalence of malaria and HIV infections and assess association of malaria and HIV infections and possible confounding factors, we performed a cross-sectional survey of people of malaria-endemic Bioko Island, Equatorial Guinea. A cross-sectional study of 1 526 subjects was carried out to determine the prevalence of malaria and HIV infection in Malabo region hospital on Bioko Island. Questionnaires were administered and venous blood samples were drawn for malaria parasites and HIV detection. The prevalence of participants infected with malaria and HIV in this area were 13.8% and 6.6% respectively. The average prevalence of co-infection for malaria and HIV was 0.92%. HIV-infection was significantly associated with the age and gender. Malaria infections were significantly associated with the age. This study showed that the prevalence of HIV and malaria on Bioko Island was higher than expected, although the co-infection prevalence of malaria and HIV was low. The results also indicated that malaria and HIV infections lead to more public health risk to youngsters and women

Genetic Polymorphisms of 24 Y-STR Loci in Nanjing Han Population / 法医学杂志

OBJECTIVES@#To investigate the genetic polymorphism of DYS391 and other 23 Y-STR loci and to explore its application value in forensic science.@*METHODS@#Y-STRs loci of 580 unrelated Han males in Nanjing were amplified using AGCU Y-PLUS PCR （24） kit. The genetic parameters of 24 Y-STR loci such as gene frequency were calculated by software, and compared with the data of Hubei, Liao- ning, Guangdong, Beijing and Chengdu Han population.@*RESULTS@#Total 580 haplotypes were detected among 24 Y-STR loci in 580 unrelated Han males in Nanjing. The genetic diversity （GD） of each locus was from 0.294 6 to 0.939 8, and the haplotypes diversity （HD） was 0.983 7. There was a significant difference between the GD of 6 areas.@*CONCLUSIONS@#The 24 Y-STR loci such as DYS391 in Nanjing Han population have an application value in forensic science. They can also be used for cases testing and pedigree investigation.

Phytochemical analysis of medicinal plants with kidney protective activities / 中国结合医学杂志

In view of the increasing number of patients undergoing kidney dialysis or transplant every year, a survey of the literature on renal protective medicinal plants was undertaken. Most of them are from traditional Chinese medicine (TCM). Although many of the medicinal herbs reported have not been investigated in terms of active chemical ingredients, some do have compounds well characterized. They fall into a wide range of structures. Several groups of compounds with well established activities are discussed. These include: antioxidant phenolic compounds like tannins, flavonoids, isoflavonoids, unsaturated organic acids and lignans; circulation enhancing compounds like saponins, and basic alkaloids with multiple targets (G-protein coupled receptors). Also presented are proinflammatory and antiinflammatory fatty acids like linoleic (n-6) and α-linolenic (n-3) acids, respectively. Attention is also drawn to the plants containing nephrotoxic aristolochic acid. Different directions of future research are also presented. We hope that this review may provide some leads for new drug discovery and development, and more rational application of TCM.

Electrophysiological Study of V535M hERG Mutation of LQT2 / 华中科技大学学报（医学）（英德文版）

This study examined the current changes of human ether-a-go-go-related gene (hERG) mutation derived from a LQT2 Chinese family with a highly penetrating phenotype.Mutation was identified and site-directed mutagenesis was performed to induce the mutation in wild-type (WT) hERG.WT　hERG and mutated V535M were cloned and transiently expressed in HEK293 cells.At the 48th and 72nd h after transfection,membrane currents were recorded using whole cell patch-clamp procedures.An A＞G transition at 1605 resulting in replacement of V535M was identified.Compared to WT,V535M mutation significantly decreased tail currents of hERG.At test potential of-40 mV after depolarizing at +50 mV,tail current densities were 83.35±7.06 pA/pF in WT and 50.38±7.74 pA/pF in V535M respectively (n=20,P＜0.01).Gating kinetics of hERG revealed that V1/2 of steady-state inactivation shifted to negative potential in the mutant (V1/2,V535M:-61.81±1.7 mV vs.V1/2,WT:-43.1±0.71mV).The time constant of recovery from inactivation was markedly prolonged in the mutant compared to WT among test potentials.V535M hERG mutation demonstrated markedly decreased tail current densities,which suggests that V535M is a new loss-of-function mutation of bERG channel responsible for LQT2.

Role of spleen tyrosine kinase in phenotypic modulation of vascular smooth muscle cell induced by platelet-derived growth factor-BB / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the role of spleen tyrosine kinase (syk) in the phenotypic modulation induced by platelet-derived growth factor (PDGF-BB) in rat pulmonary vascular smooth muscle cells (VSMC).</p><p><b>METHODS</b>Vascular smooth muscles were isolated from pulmonary media of SD rats, cultured, adopted, and divided into 3 groups: blank control group, control group and medicine intervention group. The changes of proliferation and ultrastructure of vascular smooth muscle cells by using [(3)H] thymidine incorporation and electron microscopy. The mRNA and protein expression level of syk, alpha-smooth muscle-actin (α-SM-actin) and smooth muscle protein 22alpha (SM22α) were detected by RT-PCR and Western blotting. The change of fluorescence intensity was detected by laser scanning confocal microscope.</p><p><b>RESULTS</b>Treatment with PDGF-BB for 24 h resulted in a significant increase in [(3)H] thymidine incorporation (2429.25 ± 253.36 vs. 242.75 ± 14.33,P < 0.01) and marked change in phenotype and cytoskeleton, the level of average optical density decreased significantly (263.75 ± 19.21 vs.1146.23 ± 62.61, P < 0.01). Meanwhile, the mRNA (1.70 ± 0.25 vs. 1.01 ± 0.12, P < 0.05) and protein level of syk significantly increased, the mRNA and protein expression of α-SM-actin (0.10 ± 0.00 vs. 1.00 ± 0.00, P < 0.01) and SM22α (0.18 ± 0.00 vs. 1.00 ± 0.01, P < 0.01) significantly decreased in VSMC induced by PDGF-BB. Piceatannol could inhibit significantly these biological effects. Compared with control group, the level of [(3)H] thymidine incorporation (527.00 ± 27.76 vs. 2429.25 ± 253.36,P < 0.01) was significantly down-regulated and the VSMC presented an apoptotic status in medicine intervention group, the level of average optical density increased significantly (810.65 ± 37.94 vs. 263.75 ± 19.21,P < 0.01) in medicine intervention group. Meanwhile, the mRNA (0.36 ± 0.07 vs. 1.70 ± 0.25, P < 0.01) and protein level of syk significantly decreased. The mRNA and protein levels of α-SM-actin (0.22 ± 0.00 vs. 0.10 ± 0.00, P < 0.01) and SM22α (0.31 ± 0.00 vs. 0.18 ± 0.00, P < 0.01) were significantly higher in medicine intervention group than in control group. The level of average optical density increased significantly (810.65 ± 37.94 vs. 263.75 ± 19.21, P < 0.01).</p><p><b>CONCLUSION</b>Syk plays an important role in vascular remodeling by changing the phenotypes and cytoskeleton of VSMC stimulated by PDGF-BB.</p>