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1.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 53-60, 2024.
Article in Chinese | WPRIM | ID: wpr-999160

ABSTRACT

Danggui Sinitang is first recorded in the Treatise on Cold Damage written by ZHANG Zhongjing in the Han dynasty. It is composed of Angelicae Sinensis Radix, Cinnamomi Ramulus, Paeoniae Radix Alba, Asari Radix et Rhizoma, Glycyrrhizae Radix et Rhizoma, Tetrapanacis Medulla, and Jujubae Fructus and serves as a classic formula for treating the syndrome of blood deficiency and cold reversal. This study systematically reviews the records of Danggui Sinitang in ancient Chinese medicine books of various dynasties and the modern clinical applications to probe into the composition, plant species, processing, dosage, decocting method, and indications of Danggui Sinitang, aiming to provide a reference for the development and clinical application of this classic formula. The review of the records showed that there were a variety of records of Danggui Sinitang with different composition, and the composition of this formula listed in the Treatise on Cold Damage has a significant impact on later generations and has been used by medical practitioners throughout history. Although the dosage of some drugs decreased during the Ming and Qing dynasties, the medical practitioners continued to use the original formula. In terms of processing, although there were slight changes in the processing of Angelicae Sinensis Radix, Paeoniae Radix Alba, Glycyrrhizae Radix et Rhizoma, and Tetrapanacis Medulla, the original processing method was inherited. In terms of indications, Danggui Sinitang was designed to treat cold reversal due to blood deficiency and dysentery. Furthermore, it was used to treat headache, convulsive disease, infantile convulsion, and private part adduction in the Ming and Qing dynasties. Nowadays, this formula is mostly used to treat diabetes peripheral neuropathy, rheumatoid arthritis, dysmenorrhea, Raynaud's disease and other diseases. In terms of precautions, ancient physicians believed that Danggui Sinitang should not be taken by pregnant women and should only be used for limb chills caused by blood deficiency and cold coagulation. For limb chills caused by other reasons, this formula should not be used indiscriminately. Modern research has not reported any serious adverse reactions related to this formula. Danggui Sinitang has a definite therapeutic effect. In subsequent research and development, quality control standards of Danggui Sinitang should be established while its safety is ensured, and the related preparations should be developed and applied.

2.
Chinese Journal of Trauma ; (12): 695-702, 2023.
Article in Chinese | WPRIM | ID: wpr-992652

ABSTRACT

Objective:To evaluate the clinical efficacy of modified all-arthroscopic reconstruction of medial patella femoral ligament (MPFL) for the treatment of recurrent patellar dislocation.Methods:A retrospective case series study was conducted to analyze the clinical data of 38 patients (46 knees) with recurrent patellar dislocation, who were treated at First Affiliated Hospital of Shenzhen University from January 2017 to January 2020. The patients included 12 males (12 knees) and 26 females (34 knees), aged 14-40 years [(24.6±5.4)years]. All patients underwent the modified all-arthroscopic MPFL reconstruction procedure. The femoral tunnel locations were assessed by 3D-CT immediately after surgery. The MRI was performed at 6 and 12 months after operation to assess the healing morphology of the reconstructed MPFL. The Lysholm score and Kujala score were used to assess the knee function before operation, at 6 months after operation, at 12 months after operation and at the last follow-up. The time to return to sports as well as complications were observed.Results:All patients were followed up for 26-48 months [(32.4±8.6)months]. Postoperative 3D-CT examination showed that the femoral tunnels were located in the groove area of the medial epicondyle of the femur and the adductor tubercle. At 6 and 12 months after operation, MRI T2 images showed that the reconstructed MPFL had a low signal and well tensioned ligament tissue, indicating that the MPFL was healed well. The Lysholm scores at 6 and 12 months postoperatively and at the last follow-up were (81.1±12.0)points, (91.2±3.8)points, and (92.2±9.8)points, respectively, being significantly higher than the preoperative (52.4±10.6)points (all P<0.01). The Kujala scores at 6 and 12 months postoperatively and at the last follow-up were (85.4±3.9)points, (91.4±3.6)points, and (93.1±8.5)points, respectively, being significantly higher than the preoperative (55.2±6.8)points (all P<0.01). Compared with 6 months postoperatively, the Lysholm score and Kujala score were significantly improved at 12 months postoperatively and at the last follow-up (all P<0.05). All patients returned to sports, with the time to return to sports for 3-12 months [(8.7±2.3)months] after operation. One patient had poor wound healing but was healed after dressing changes. No wound infection, nerve injury, joint stiffness, patella re-dislocation or other complications occurred. Conclusion:For recurrent patellar dislocation, the modified all-arthroscopic MPFL reconstruction has advantages of accurate bone tunnel positioning, good ligament healing, good function recovery, early return to sports, and less postoperative complications.

3.
Chinese Journal of Trauma ; (12): 289-298, 2023.
Article in Chinese | WPRIM | ID: wpr-992601

ABSTRACT

Periarticular fracture of the shoulder is a common type of fractures in the elderly. Postoperative adverse events such as internal fixation failure, humeral head ischemic necrosis and upper limb dysfunction occur frequently, which seriously endangers the exercise and health of the elderly. Compared with the fracture with normal bone mass, the osteoporotic periarticular fracture of the shoulder is complicated with slow healing and poor rehabilitation, so the clinical management becomes more difficult. At present, there is no targeted guideline or consensus for this type of fracture in China. In such context, experts from Youth Osteoporosis Group of Chinese Orthopedic Association, Orthopedic Expert Committee of Geriatrics Branch of Chinese Association of Gerontology and Geriatrics, Osteoporosis Group of Youth Committee of Chinese Association of Orthopedic Surgeons and Osteoporosis Committee of Shanghai Association of Chinese Integrative Medicine developed the Chinese expert consensus on the diagnosis and treatment of osteoporotic periarticular fracture of the shoulder in the elderly ( version 2023). Nine recommendations were put forward from the aspects of diagnosis, treatment strategies and rehabilitation of osteoporotic periarticular fracture of the shoulder, hoping to promote the standardized, systematic and personalized diagnosis and treatment concept and improve functional outcomes and quality of life in elderly patients with osteoporotic periarticular fracture of the shoulder.

4.
Chinese Journal of Infectious Diseases ; (12): 440-446, 2023.
Article in Chinese | WPRIM | ID: wpr-992545

ABSTRACT

Objective:To assess the early physical growth and development of human immunodeficiency virus-exposed uninfected (HEU) children by longitudinally comparing the differences of growth and development between HEU group and the healthy human immunodeficiency virus-unexposed uninfected (HUU) control group of children aged 0 to 18 months.Methods:A retrospective cohort study was designed.Maternal information of the human immunodeficiency virus (HIV) infected mothers and follow-up information at 0, 1, 3, 6, 9, 12, and 18 months postpartum of their children (born between January 2013 and December 2019 in Chengdu City) were collected from the Information System of Prevention of Mother-to-Child Transmission of Human Immunodeficiency Virus Management. The HUU control group was matched with HEU group by maternal age, gestational age at birth, and infant gender at a ratio of 1∶1. There were 385 children each included in the HEU and HUU groups. Matched samples t-test and the multilevel models were used to compared the physical developmental differences between the two groups. Results:Weight for age Z scores (WAZ) at 0, 3, 6 months of HEU group were -0.72±1.03, -0.09±1.18 and 0.05±1.09, respectively, which were all lower than WAZ of HUU group (-0.21±1.04, 0.42±1.19 and 0.41±1.16, respectively), which were all significantly different ( t=8.41, 7.47 and 5.18, respectively, all P<0.001). Length for age Z scores (LAZ) at 3, 6, 12, 18 months of HEU group were -0.23±1.36, -0.01±1.48, -0.18±1.20 and -0.32±1.13, respectively, which were all lower than LAZ of HUU group (0.24±1.26, 0.30±1.26, 0.07±1.11 and 0.04±1.05, respectively), which were all significantly different ( t=6.14, 4.04, 2.72 and 4.30, respectively, all P<0.01). Weight for length Z scores (WLZ) at 0, 3, 6 months of HEU group were -1.05±1.18, 0.23±1.03 and 0.22±0.95, respectively, which were all lower than WLZ of HUU group (-0.20±0.98, 0.44±1.03 and 0.45±1.00, respectively), which were all significantly different ( t=10.90, 2.95 and 2.96, respectively, all P<0.01). After possible confounding factors were corrected, the WAZ of HEU children at 0, 3, 6 months were still lower than those of HUU children, the LAZ of 3, 6, 12, 18 months were still lower than those of HUU children, and the WLZ of 0, 3, 6 months were still lower than those of HUU children. Conclusions:The differences between HEU and HUU children in Chengdu City mainly occur within six months of age, but the differences of body length persist until 18 months of age.Prenatal exposure to HIV infection affects both fetal and postnatal body growth and development.

5.
Journal of Chinese Physician ; (12): 23-27, 2023.
Article in Chinese | WPRIM | ID: wpr-992255

ABSTRACT

Objective:To explore the relationship between serum albumin (ALB), erythrocyte sedimentation rate (ESR), platelet/lymphocyte ratio (PLR), neutrophil/lymphocyte ratio (NLR) and coronary artery disease in children with Kawasaki disease (KD).Methods:120 KD children diagnosed in the Affiliated Hospital of Jining Medical College from December 2016 to November 2021 were selected as the research objects. They were divided into observation group (KD with coronary artery disease) and control group (KD with coronary artery disease) according to whether they had coronary artery disease, with 60 cases in each group; the serum ALB, ESR, PLR, NLR values of the two groups of children were compared. Receiver operating characteristic (ROC) curve was used to analyze the value of the above indicators in diagnosing KD children with coronary artery disease. The serum ALB, ESR, PLR, NLR levels of KD children with different degrees of coronary artery disease were analyzed.Results:The main manifestations of coronary artery disease in 60 children with KD combined with coronary artery disease were left main coronary artery and left anterior descending branch widening [56.67%(34/60)], left main coronary artery and left anterior descending branch widening [20.00%(12/60)], left anterior descending branch widening [16.67%(10/60)], left main coronary artery widening [11.67%(7/60)]. The serum ALB in the observation group was significantly lower than that in the control group ( P<0.05), and ESR was significantly higher than that in the control group ( P<0.05). There was no significant difference in serum PLR and NLR between observation group and control group (all P>0.05). The sensitivity, specificity and area under curve (AUC) value of serum ALB in diagnosing coronary artery disease in KD children were 73.61%, 78.42% and 0.813 respectively; The sensitivity, specificity and AUC of ESR in diagnosing coronary artery disease in KD children were 88.36%, 83.14% and 0.892 respectively; The sensitivity, specificity and AUC value of ESR combined with ALB in diagnosing coronary artery disease in KD children were 90.67%, 97.54% and 0.953 respectively. Among 60 children with KD complicated with coronary artery disease, 39 were diagnosed as coronary artery dilatation and 21 had coronary artery aneurysm. The serum ALB of children in the coronary artery aneurysm group was significantly lower than that in the coronary artery dilatation group ( P<0.05), and ESR was significantly higher than that in the coronary artery dilatation group ( P<0.05). There was no significant difference in PLR and NLR between the coronary artery aneurysm group and the coronary artery dilatation group (all P>0.05). Conclusions:Children with KD and coronary artery disease have lower serum ALB levels and higher ESR level. The above two indicators are of great value for the diagnosis of children with KD and coronary artery disease.

6.
Chinese Critical Care Medicine ; (12): 250-255, 2023.
Article in Chinese | WPRIM | ID: wpr-992012

ABSTRACT

Objective:To investigate the effect of Liangxue Huoxue decoction on intestinal flora, intestinal barrier and NOD-like receptor protein 3 (NLRP3)/caspase-1/gasdermin D (GSDMD) pyroptosis signaling pathway in mice model of sepsis-induced acute kidney injury (AKI).Methods:The model of AKI was established by cecal ligation and perforation (CLP). Thirty male C57BL/6 mice were randomly divided into sham operation group (Sham group), sepsis group (CLP group) and sepsis+Liangxue Huoxue decoction (CLP+LXHX group), with 10 mice in each group. Mice in Sham group only underwent laparotomy. Two hours before model establishment, mice in CLP+LXHX group were treated with Liangxue Huoxue decoction (6 g/kg) by gavage; mice in Sham group and CLP group were given equal volume of normal saline by gavages. After 24 hours of modeling, all mice were sacrificed under anesthesia, and the colon and kidney tissues and fresh feces in the colon were taken. The pathological changes of kidney and colon were observed by hematoxylin-eosin (HE) staining under light microscope. Real-time polymerase chain reaction (RT-PCR) was used to detect inflammatory factors (interleukins, IL-1β and IL-18) in renal tissue. The expressions of NLRP3, caspase-1 and GSDMD were detected by Western blotting. The changes of intestinal flora in mice were detected by 16S rDNA high-throughput sequencing.Results:Compared with the Sham group, the inflammatory cell infiltration of the kidney tissue was increased and the kidney became vacuolated in CLP group, the mRNA expressions of IL-1β, IL-18, and the protein expressions of NLRP3, caspase-1 and GSDMD were significantly increased in CLP group, the species richness of intestinal microflora decreased significantly, the relative abundance of Enterococcus and Escherichia-Shigella increased significantly, and the relative abundance of Ileibacterium, Alloprevotella, Lachnospiraceae, Klebsiella and Parasutterella increased significantly in CLP group. Compared with CLP group, Liangxue Huoxue decoction can significantly reduce the pathological changes of kidney and colon tissue, reduce the pathological score (1.75±0.43 vs. 3.50±0.50 for kidney tissue, 1.25±0.43 vs. 4.50±0.50 for colon tissue, both P < 0.05), improve the composition of intestinal flora, reduce the relative abundance of Enterococcus and Escherichia-Shigella, and significantly increase the relative abundance of Lactobacillus and Akkermansia. In addition, Liangxue Huoxue decoction can significantly reduce mRNA expressions of IL-1β and IL-18 in kidney tissue [IL-1β mRNA (2 -ΔΔCt): 1.59±0.05 vs. 4.61±0.88, IL-18 mRNA (2 -ΔΔCt): 1.69±0.17 vs. 2.86±0.63, both P < 0.05] and the protein expressions of NLRP3, caspase-1 and GSDMD (NLRP3/GAPDH: 0.71±0.04 vs. 0.89±0.01, caspase-1/GAPDH: 1.04±0.04 vs. 1.48±0.04, GSDMD/GAPDH: 0.90±0.01 vs. 1.41±0.02, all P < 0.05). Conclusions:Liangxue Huoxue decoction has obvious protective effect on AKI induced by sepsis. It can improve intestinal barrier by regulating intestinal flora, thereby inhibiting the activation of NLRP3/caspase-1/GSDMD signaling pathway in kidney tissue and reducing the expression of proptosis-related inflammatory factors.

7.
Chinese Journal of Practical Nursing ; (36): 1410-1415, 2023.
Article in Chinese | WPRIM | ID: wpr-990351

ABSTRACT

Objective:To investigate the mediating effect of rumination in primiparae on the expectation gap of social support and postpartum depression, so as to provide a reference basis for early detection and intervention in the regulation of meternal postpartum depression.Methods:In this cross-sectional study, questionnaires were administered from November 2021 to March 2022 using the general information questionnaire, the Ruminant Thinking Response Scale, the Postpartum Social Support Scale, and the Edinburgh Postpartum Depression Scale to 266 primiparae at three tertiary level A hospitals, the First Affiliated Hospital of Xi′an Jiaotong University, the Second Affiliated Hospital of Xi′an Jiaotong University, and the Northwest Women′s and Children′s Hospital, for postpartum review, and the relationship between ruminant thinking, social support expectation gap, and postpartum depression was analyzed using correlation analysis, structural equation modeling, and application of Bootsrap method.Results:The social support expectation gap, ruminative thinking, and postpartum depression average scores were (16.74 ± 12.77), (39.43 ± 4.14), (6.77 ± 2.77) points, respectively.There were positive correlations between social support expectation gap and ruminative thinking, postpartum depression, and ruminative thinking and postpartum depression ( r=0.62, 0.75, 0.70, all P<0.01). Primiparae ruminative thinking partially mediated the relationship between social support expectation gap and postpartum depression, with the mediating effect accounting for 22% of the total effect. Conclusions:Social support expectation gap can directly affect the occurrence of postpartum depression, but also indirectly through ruminative thinking, and postpartum depression can be prevented and intervened from the perspective of reducing ruminative thinking in clinical practice.

8.
Chinese Journal of Pediatrics ; (12): 339-344, 2023.
Article in Chinese | WPRIM | ID: wpr-985873

ABSTRACT

Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.


Subject(s)
Female , Humans , Infant , Male , Benserazide/therapeutic use , Dystonia/genetics , Hypokinesia/drug therapy , Levodopa/pharmacology , Muscle Hypotonia , Retrospective Studies , Tyrosine 3-Monooxygenase/genetics
9.
Chinese Journal of Preventive Medicine ; (12): 1047-1058, 2023.
Article in Chinese | WPRIM | ID: wpr-985515

ABSTRACT

Objective: Compare and analyze the results of the domestic Lanyi AH600 glycated hemoglobin analyzer and other different detection systems to understand the comparability of the detection results of different detectors, and establish the best cut point of Lanyi AH600 determination of haemoglobin A1c (HbA1c) in the diagnosis of diabetes. Methods: Multi center cohort study was adopted. The clinical laboratory departments of 18 medical institutions independently collected test samples from their respective hospitals from March to April 2022, and independently completed comparative analysis of the evaluated instrument (Lanyi AH600) and the reference instrument HbA1c. The reference instruments include four different brands of glycosylated hemoglobin meters, including Arkray, Bio-Rad, DOSOH, and Huizhong. Scatter plot was used to calculate the correlation between the results of different detection systems, and the regression equation was calculated. The consistency analysis between the results of different detection systems was evaluated by Bland Altman method. Consistency judgment principles: (1) When the 95% limits of agreement (95% LoA) of the measurement difference was within 0.4% HbA1c and the measurement score was≥80 points, the comparison consistency was good; (2) When the measurement difference of 95% LoA exceeded 0.4% HbA1c, and the measurement score was≥80 points, the comparison consistency was relatively good; (3) The measurement score was less than 80 points, the comparison consistency was poor. The difference between the results of different detection systems was tested by paired sample T test or Wilcoxon paired sign rank sum test; The best cut-off point of diabetes was analyzed by receiver operating characteristic curve (ROC). Results: The correlation coefficient R2 of results between Lanyi AH600 and the reference instrument in 16 hospitals is≥0.99; The Bland Altman consistency analysis showed that the difference of 95% LoA in Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180) was -0.486%-0.325%, and the measurement score was 94.6 points (473/500); The difference of 95% LoA in the Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant II) was -0.727%-0.612%, and the measurement score was 89.8 points; The difference of 95% LoA in the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT) was -0.231%-0.461%, and the measurement score was 96.6 points; The difference of 95% LoA in the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT) was -0.469%-0.479%, and the measurement score was 91.9 points. The other 14 hospitals, Lanyi AH600, were compared with 4 reference instrument brands, the difference of 95% LoA was less than 0.4% HbA1c, and the scores were all greater than 95 points. The results of paired sample T test or Wilcoxon paired sign rank sum test showed that there was no statistically significant difference between Lanyi AH600 and the reference instrument Arkray HA8180 (Z=1.665,P=0.096), with no statistical difference. The mean difference between the measured values of the two instruments was 0.004%. The comparison data of Lanyi AH600 and the reference instrument of all other institutions had significant differences (all P<0.001), however, it was necessary to consider whether it was within the clinical acceptable range in combination with the results of the Bland-Altman consistency analysis. The ROC curve of HbA1c detected by Lanyi AH600 in 985 patients with diabetes and 3 423 patients with non-diabetes was analyzed, the area under curve (AUC) was 0.877, the standard error was 0.007, and the 95% confidence interval 95%CI was (0.864, 0.891), which was statistically significant (P<0.001). The maximum value of Youden index was 0.634, and the corresponding HbA1c cut point was 6.235%. The sensitivity and specificity of diabetes diagnosis were 76.2% and 87.2%, respectively. Conclusion: Among the hospitals and instruments currently included in this study, among these four hospitals included Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180), Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant Ⅱ), the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT), and the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT), the comparison between Lanyi AH600 and the reference instruments showed relatively good consistency, while the other 14 hospitals involved four different brands of reference instruments: Arkray, Bio-Rad, DOSOH, and Huizhong, Lanyi AH600 had good consistency with its comparison. The best cut point of the domestic Lanyi AH600 for detecting HbA1c in the diagnosis of diabetes is 6.235%.


Subject(s)
Pregnancy , Child , Humans , Female , Glycated Hemoglobin , Cohort Studies , Diabetes Mellitus/diagnosis , Sensitivity and Specificity , ROC Curve
10.
Chinese Journal of Medical Genetics ; (6): 213-216, 2023.
Article in Chinese | WPRIM | ID: wpr-970907

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).@*METHODS@#A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.


Subject(s)
Child , Female , Humans , Pregnancy , Autistic Disorder/genetics , Brain , Computational Biology , Genetic Counseling , Mutation , Nerve Tissue Proteins/genetics , Neuro-Oncological Ventral Antigen , Neurodevelopmental Disorders , RNA-Binding Proteins
11.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 231-236, 2023.
Article in Chinese | WPRIM | ID: wpr-970745

ABSTRACT

The rapid development of high-speed railway in China has proposed higher requests for the comfort level of high-speed trains. However, there is no internationally unified evaluation criterion for high-speed train comfort currently, which therefore substantially affects the comparability and standardization of research results for high-speed train comfort. This paper systematically reviews the research literature about evaluation indicators and standards related to high-speed train comfort, and finds that there is currently no unified definition, evaluation indicators, as well as evaluation criterion for high-speed train comfort. Most current evaluation criteria are based on a single indicator. Some indicators are simultaneously developed by different apartments and differ between each other, and there is no comprehensive indicator or criteria for high-speed train comfort, restricting the comparison of high-speed train comfort across regions. It is recommended that the administrative department of high-speed railroad in China should organize experts to establish a unified definition of high-speed train comfort, comprehensive evaluation indicators and relevant judgment criteria for high-speed train comfort, in face of the rapid development and globalization of high-speed trains.


Subject(s)
China , Railroads , Reference Standards
12.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 87-93, 2023.
Article in Chinese | WPRIM | ID: wpr-970718

ABSTRACT

Objective: To explore the characteristics and rules of blood pressure changes in oceanauts during simulated operation of manipulator and troubleshooting tasks with different difficulty. Methods: In July 2020, 8 deep-sea manned submersible oceanauts, 6 males and 2 females, were selected as objects. In the 1∶1 model of Jiaolong deep-sea manned submersible, the oceanauts performed manipulator operation tasks and troubleshooting tasks with different difficulties, measured the continuous blood pressure of the oceanauts, filled in the NASA Task Load Index (NASA-TLX scale) after the completion of a single mission, and the changes of systolic pressure (SBP), diastolic pressure (DBP), mean arterial pressure (MAP) and mental workload were analyzed. Results: In a single task, the SBP, DBP and MAP of the oceanauts increased first and then decreased. The blood pressure values at the third minute were significantly lower than those at the first minute (P<0.01), and those at the fifth minute were significantly higher than those at the third minute (P<0.01). When performing the same task, compared with the quiet state, SBP, DBP and MAP increased when the oceanauts performed low difficulty, high difficulty, high difficulty+2-back manipulator operation task and troubleshooting task (P<0.05). When the task difficulty was the same, the SBP and MAP of oceanauts performing manipulator operation tasks were higher than those of oceanauts performing troubleshooting tasks (P<0.05). Compared with low difficulty tasks, the scores of NASA-TLX scale for oceanauts performing high difficulty manipulator operationtasks were significantly higher (P<0.05). Compared with the low difficulty task and high difficulty task, the scale score of the high difficulty+2-back troubleshooting task was significantly higher (P<0.05). When the task difficulty was the same, the scale scores of low difficulty and high difficulty manipulator operation tasks were significantly higher than those of troubleshooting tasks (P<0.05). SBP, DBP, MAP of No. 1, No. 3, No. 4, No. 5, and No. 7 oceanauts (all of whom had 6 years of diving) were positively correlated with NASA-TLX scale scores (r>0.8, P<0.05) . Conclusion: In the process of manned deep-sea diving, when the oceanauts perform manipulator operation tasks and troubleshooting tasks, with the increase of task difficulty, the mental load of oceanauts increases, and the blood pressure index increases significantly in a short time. At the same time, improving the proficiency of operation can reduce the variation range of blood pressure indexes. Blood pressure can be used as an effective reference to evaluate the difficulty of operation and guide scientific training.


Subject(s)
Female , Male , Humans , Blood Pressure , Diving , Workload
13.
Shanghai Journal of Preventive Medicine ; (12): 1-7, 2023.
Article in Chinese | WPRIM | ID: wpr-969286

ABSTRACT

ObjectiveTo obtain the prevalence of sarcopenia in middle-aged and elderly people in Urumqi based on the 2020 updated based on the 2020 updated Consensus Report 2019 of Asian Working Group for Sarcopenia (AWGS2019), and to further explore the association between sarcopenia and metabolic syndrome (MS). MethodsA total of 1 438 middle-aged and elderly people (aged≥50 years) in Urumqi from July 2018 to January 2019 were selected as the research subjects. Data were collected by questionnaire survey, physical examination and laboratory test. Skeletal muscle mass,grip strength and 4 m walking speed were used to represent muscle mass, muscle strength and body function, respectively. Bioelectrical impedance analysis (BIA) was used to measure human body components. Based on the diagnostic criteria of sarcopenia recommended by AWGS2019, the prevalence of sarcopenia in people over 50 years old was obtained. Multivariate logistic regression model was used to explore the correlation between sarcopenia and MS in middle-aged and elderly people of different genders. ResultsThere were 194 patients with sarcopenia, with a prevalence of 13.49%. The prevalence was 15.56% in males and 12.12% in females. There was no significant difference in the prevalence of MS between male sarcopenia group (40.45%) and non-sarcopenia group (38.92%), while the prevalence of MS in female sarcopenia group (39.04%) was higher than that in non-sarcopenia group (27.56%). Multivariate logistic regression analysis showed that sarcopenia was a related factor of MS. Compared with non-sarcopenia, the risk of MS in male sarcopenia group was higher (OR=2.11,95%CI: 1.15‒3.88 ). ConclusionSarcopenia increases the risk of MS in middle-aged and elderly people, with a greater risk in men. Fully understanding of sarcopenia is helpful to early identify high-risk groups of MS and prevent the occurrence of MS.

14.
Neuroscience Bulletin ; (6): 893-910, 2023.
Article in English | WPRIM | ID: wpr-982439

ABSTRACT

Accurate and efficient methods for identifying and tracking each animal in a group are needed to study complex behaviors and social interactions. Traditional tracking methods (e.g., marking each animal with dye or surgically implanting microchips) can be invasive and may have an impact on the social behavior being measured. To overcome these shortcomings, video-based methods for tracking unmarked animals, such as fruit flies and zebrafish, have been developed. However, tracking individual mice in a group remains a challenging problem because of their flexible body and complicated interaction patterns. In this study, we report the development of a multi-object tracker for mice that uses the Faster region-based convolutional neural network (R-CNN) deep learning algorithm with geometric transformations in combination with multi-camera/multi-image fusion technology. The system successfully tracked every individual in groups of unmarked mice and was applied to investigate chasing behavior. The proposed system constitutes a step forward in the noninvasive tracking of individual mice engaged in social behavior.


Subject(s)
Animals , Mice , Deep Learning , Zebrafish , Algorithms , Neural Networks, Computer , Social Behavior
15.
Asian Journal of Andrology ; (6): 350-355, 2023.
Article in English | WPRIM | ID: wpr-981954

ABSTRACT

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.


Subject(s)
Humans , Male , Consanguinity , Pakistan , Infertility, Male/metabolism , Semen/metabolism , Sperm Tail/metabolism , Spermatozoa/metabolism , Flagella/pathology , Mutation
16.
Chinese Journal of Medical Genetics ; (6): 838-841, 2023.
Article in Chinese | WPRIM | ID: wpr-981832

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.@*METHODS@#A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).@*CONCLUSION@#The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.


Subject(s)
Humans , Child , Female , Intellectual Disability/genetics , Hearing Loss, Sensorineural/genetics , Ataxia , Genetic Diseases, X-Linked , Mutation
17.
Chinese Journal of Medical Genetics ; (6): 577-581, 2023.
Article in Chinese | WPRIM | ID: wpr-981792

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).@*METHODS@#A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites.@*RESULTS@#The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3).@*CONCLUSION@#The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.


Subject(s)
Female , Humans , Infant , Cytochrome P450 Family 2/genetics , Mutation , Pedigree , Phenotype , Spastic Paraplegia, Hereditary/genetics
18.
China Journal of Chinese Materia Medica ; (24): 3360-3372, 2023.
Article in Chinese | WPRIM | ID: wpr-981472

ABSTRACT

UPLC-Q-Exactive-MS/MS and network pharmacology were employed to preliminarily study the active components and mechanism of Jinwugutong Capsules in the treatment of osteoporosis. Firstly, UPLC-Q-Exactive-MS/MS was employed to characterize the chemical components of Jinwugutong Capsules, and network pharmacology was employed to establish the "drug-component-target-pathway-disease" network. The key targets and main active components were thus obtained. Secondly, AutoDock was used for the molecular docking between the main active components and key targets. Finally, the animal model of osteoporosis was established, and the effect of Jinwugutong Capsules on the expression of key targets including RAC-alpha serine/threonine-protein kinase(AKT1), albumin(ALB), and tumor necrosis factor-alpha(TNF-α) was determined by enzyme-linked immunosorbent assay(ELISA). A total of 59 chemical components were identified from Jinwugutong Capsules, among which coryfolin, 8-prenylnaringenin, demethoxycurcumin, isobavachin, and genistein may be the main active components of Jinwugutong Capsules in treating osteoporosis. The topological analysis of the protein-protein interaction(PPI) network revealed 10 core targets such as AKT1, ALB, catenin beta 1(CTNNB1), TNF, and epidermal growth factor receptor(EGFR). The Kyoto Encyclopedia of Genes and Genomes(KEGG) enrichment showed that Jinwugutong Capsules mainly exerted the therapeutic effect by regulating the phosphatidylinositol 3-kinase(PI3K)/protein kinase B(AKT) signaling pathway, neuroactive ligand-receptor interaction, mitogen-activated protein kinase(MAPK) signaling pathway, Rap1 signaling pathway and so on. Molecular docking showed that the main active components of Jinwugutong Capsules well bound to the key targets. ELISA results showed that Jinwugutong Capsules down-regulated the protein levels of AKT1 and TNF-α and up-regulated the protein level of ALB, which preliminarily verified the reliability of network pharmacology. This study indicates that Jinwugutong Capsules may play a role in the treatment of osteoporosis through multiple components, targets, and pathways, which can provide reference for the further research.


Subject(s)
Animals , Tumor Necrosis Factor-alpha/genetics , Network Pharmacology , Capsules , Molecular Docking Simulation , Phosphatidylinositol 3-Kinases , Reproducibility of Results , Tandem Mass Spectrometry
19.
Acta Academiae Medicinae Sinicae ; (6): 519-525, 2023.
Article in Chinese | WPRIM | ID: wpr-981300

ABSTRACT

Noise is one of the most common environmental hazards to which people are exposed,and the exposure to noise can cause not only hearing but also non-hearing damage.Although noise under safety limits may not affect the auditory system,it can cause changes in stress hormone levels,which is harmful to health.However,the current studies about the impact of noise on health mainly focus on the auditory system,and little is known about the relationship between noise and stress hormone levels.Therefore,this paper reviews the studies involving noise exposure and stress hormone levels,aiming to provide ideas for strengthening the prevention and control of noise hazards.


Subject(s)
Humans , Hearing , Noise/adverse effects , Hormones
20.
Acta Academiae Medicinae Sinicae ; (6): 506-511, 2023.
Article in Chinese | WPRIM | ID: wpr-981298

ABSTRACT

During interventional procedures,subjects are exposed to direct and scattered X-rays.Establishing diagnostic reference levels is an ideal way to optimize the radiation dose and reduce radiation hazard.In recent years,diagnostic reference levels in interventional radiology have been established in different countries.However,because of the too many indicators for characterizing the radiation dose,the indicators used to establish diagnostic reference levels vary in different countries.The research achievements in this field remain to be reviewed.We carried out a retrospective analysis of the definition,establishment method,application,and main factors influencing the dose difference of the diagnostic reference level,aiming to provide a basis for establishing the diagnostic reference level for interventional procedures in China.


Subject(s)
Humans , Diagnostic Reference Levels , Radiology, Interventional/methods , Radiation Dosage , Retrospective Studies , Radiography
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