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1.
Chinese Journal of Contemporary Pediatrics ; (12): 67-71, 2024.
Article in Chinese | WPRIM | ID: wpr-1009895

ABSTRACT

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.


Subject(s)
Child , Infant, Newborn , Humans , Retrospective Studies , Metabolic Diseases/genetics , Amino Acid Metabolism, Inborn Errors/genetics , China , Child Health
2.
Chinese Journal of Health Management ; (6): 405-411, 2023.
Article in Chinese | WPRIM | ID: wpr-993679

ABSTRACT

Objective:To assess the detection rates of preconception health risks among couples of reproductive age in China and analyze the differences between 2013 and 2019.Methods:In this cross-sectional study, the preconception health examination data of 9 153 916 couples of 20-49 years who participated in the National Free Preconception Health Examination Project in 2013 or 2019 were consecutively selected. The health risks involved eight aspects in women (genetic risk, reproductive risk, chronic disease risk, infectious risk, nutritional risk, behavioral risk, environmental risk and psychosocial risk) and seven aspects in men except for reproductive risks were assessed. The t test and χ2 test were used to compare the differences in demographic characteristics between the couples of reproductive age. The detection rates and 95% CI of each preconception health risk were calculated and the χ2 test was used to compare the differences in the detection rates of risk factors. Results:In 2019, the proportion of couples of reproductive age in China who were 35 years or older, had an education background of high school and above, workers, and held non-agricultural registered residence were all higher than those in 2013 (15.18% vs 6.22%, 52.12% vs 29.78%, 8.33% vs 7.17%, 12.39% vs 6.64%), while the proportion of farmers was significantly lower than that in 2013 (60.95% vs 76.87%) (all P<0.001). In 2013, the three health risks with the highest detection rate among Chinese women of reproductive age was nutritional risk (37.50%), infectious risk (16.95%) and psychosocial risk (11.62%), respectively; while in 2019, it was nutritional risk (38.07%), infectious risk (12.82%), and chronic disease risk (11.12%), respectively. The detection rate of nutritional risk in Chinese women of reproductive age in 2019 was significantly higher than that in 2013 (38.07% vs 37.50%), while the detection rates of infectious risk and psychosocial risk were both lower than those in 2013 (12.82% vs 16.95% and 7.37% vs 11.62%) (all P<0.001). In 2013, the top three risks detected in men of reproductive age was behavioral risk (44.87%), nutritional risk (36.81%) and psychosocial risk (13.43%), respectively; and in 2019, it was nutritional risk (45.47%), behavioral risk (38.76%) and psychosocial risk (9.18%), respectively. The detection rates of nutritional risk in men of reproductive age in 2019 was significantly higher than that in 2013 (45.47% vs 36.81%), while the detection rates of behavioral risk and psychosocial risk were both lower than those in 2013 (38.76% vs 44.87%, 9.18% vs 13.43%) (all P<0.001). Conclusions:The detection rate of nutritional risk in couples of reproductive age and genetic risk in men in 2019 in China are higher than those in 2013, and the exposure to the other preconception health risks is decreasing. The nutritional risk, infection risk, psychosocial risk and chronic disease risk are the main risk factors for women of reproductive age, while the nutritional risk, behavioral risk and psychosocial risk are the main risk factors for men.

3.
Chinese Journal of Medical Genetics ; (6): 57-61, 2023.
Article in Chinese | WPRIM | ID: wpr-970878

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.


Subject(s)
Child , Humans , Intellectual Disability/genetics , Frameshift Mutation , High-Throughput Nucleotide Sequencing , Computational Biology , Heterozygote , Mutation , ras GTPase-Activating Proteins/genetics
4.
China Journal of Orthopaedics and Traumatology ; (12): 72-78, 2023.
Article in Chinese | WPRIM | ID: wpr-970823

ABSTRACT

OBJECTIVE@#To provide basic data for clinical application and individualized design of lumbar disc prostheses by measuring the anatomical parameters of lumbar intervertebral discs and endplates in healthy adults with CT three-dimensional reconstruction technology.@*METHODS@#A retrospective analysis was performed on 200 males and 200 females with normal lumbar spine who were admitted to the imaging center or outpatient department of the Second Affiliated Hospital of Xinjiang Medical University from September 2019 to December 2020. The age ranged from 20 to 60 years old, with an average of (40.61±11.22) years old. The measurement segment was L1-S1 intervertebral disc, and the measurement indicators included the axial anteroposterior diameter and transverse diameter of the intervertebral disc, sagittal anterior, middle and posterior height, coronal left and right height, intervertebral space angle, and transverse and anteroposterior diameters of the upper and lower endplates of each vertebral body.@*RESULTS@#①In terms of gender, the anatomical parameters of L1-S1 disc axial diameter, transverse diameter, sagittal anterior, middle and posterior height, left and right coronal height and intervertebral space angle were all higher in males than in females(P<0.05), and the anatomical parameters of upper and lower endplates of L1-S1 vertebral body were higher in males than in females(P<0.001). ②In comparison of sagittal height of anterior, middle and posterior intervertebral discs, the sagittal height of L1-L5 intervertebral discs was middle-high > anterior-high > posterior-high(P<0.001), while that of L5S1 intervertebral disc was anterior-high > middle-high > posterior-high (P<0.001). ③In the comparison of left and right coronal height, there was no statistical significance in the left and right coronal height of L1-S1 disc between male and female(P>0.05). ④The L1-S1 intervertebral spaces angle between male and female increased with the increase of vertebral body segments. ⑤The anterior and posterior diameters and transverse diameters of upper and lower of L1-S1 vertebral bodies endplates were height in males than in females(P<0.001).@*CONCLUSION@#The results suggest that gender differences should be considered in the design of adult lumbar disc prostheses. The anatomical parameters of the lumbar intervertebral disc varied with the increase of the vertebral body sequence, suggesting that different anatomical parameters of the intervertebral disc should be considered in the design of the artificial intervertebral disc, and the changes in the height of the sagittal position suggest that the design of the intervertebral disc should be wedge-shaped.


Subject(s)
Adult , Humans , Male , Female , Young Adult , Middle Aged , Retrospective Studies , Intervertebral Disc/diagnostic imaging , Lumbar Vertebrae/diagnostic imaging , Lumbosacral Region , Tomography, X-Ray Computed
5.
Chinese Critical Care Medicine ; (12): 367-370, 2023.
Article in Chinese | WPRIM | ID: wpr-982595

ABSTRACT

OBJECTIVE@#To investigate the survival of patients with cardiac arrest and cardiopulmonary resuscitation (CA-CPR), and to analyze the factors influencing survival at 30 days after restoration of spontaneous circulation (ROSC).@*METHODS@#A retrospective cohort study was conducted. Clinical data of 538 patients with CA-CPR admitted to the People's Hospital of Ningxia Hui Autonomous Region from January 2013 to September 2020 were enrolled. The gender, age, underlying disease, cause of CA, type of CA, initial rhythm, presence or absence of endotracheal intubation, defibrillation, use of epinephrine, and 30-day survival rate of patients were collected. The etiology of CA and 30-day survival rate among patients with different ages were compared, as well as the clinical data between patients who survived and died at 30 days after ROSC were also compared. Multivariate Logistic regression was used to analyze the relevant factors affecting the 30-day survival rate of patients.@*RESULTS@#Among 538 patients with CA-CPR, 67 patients with incomplete information were excluded, and 471 patients were enrolled. Among 471 patients, 299 were males and 172 were females. Aged from 0 to 96 years old, 23 patients (4.9%) were < 18 years old, 205 patients (43.5%) were 18 to 64 years old, and 243 patients (51.6%) were ≥ 65 years old. 302 cases (64.1%) achieved ROSC, and 46 patients (9.8%) survived for more than 30 days. The 30-day survival rate of patients aged < 18 years old, 18-64 years old and ≥ 65 years old was 8.7% (2/23), 12.7% (26/205) and 7.4% (18/243), respectively. The main causes of CA in patients younger than 18 years were severe pneumonia (13.1%, 3/23), respiratory failure (13.1%, 3/23), and trauma (13.1%, 3/23). The main causes were acute myocardial infarction (AMI; 24.9%, 51/205), respiratory failure (9.8%, 20/205), and hypoxic brain injury (9.8%, 20/205) in patients aged 18-64 years old, and AMI (24.3%, 59/243) and respiratory failure (13.6%, 33/243) in patients aged ≥ 65 years old. Univariate analysis results revealed that the 30-day survival rate of patients with CA-CPR may be related to the the cause of CA was AMI, initial rhythm was ventricular tachycardia/ventricular fibrillation, endotracheal intubation and epinephrine. Multivariate Logistic regression analysis results showed that CA was caused by AMI [odds ratio (OR) = 0.395, 95% confidence interval (95%CI) was 0.194-0.808, P = 0.011] and endotracheal intubation (OR = 0.423, 95%CI was 0.204-0.877, P = 0.021) was a protective factor for 30 days of survival after ROSC in patients with CA-CPR.@*CONCLUSIONS@#The 30-day survival rate of CA-CPR patients was 9.8%. The 30-day survival rate of CA-CPR patients with AMI after ROSC is higher than that of patients with other CA causes, and early endotracheal intubation can improve the prognosis of patients.


Subject(s)
Female , Male , Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and over , Retrospective Studies , Survival Rate , Heart Arrest , Hospitals , Epinephrine , Ventricular Fibrillation
6.
China Journal of Chinese Materia Medica ; (24): 6403-6407, 2023.
Article in Chinese | WPRIM | ID: wpr-1008839

ABSTRACT

This study aimed to investigate the chemical constituents of supercritical extract from Qi-nan Aquilariae Lignum Resinatum by silica gel column chromatography, thin-layer chromatography, and semi-preparative high-performance liquid chromatography. One new elemane-type and one new eudesmane-type sesquiterpene compounds were isolated from the extract, and their structures were identified by MS, UV, IR, NMR, and ECD spectroscopic techniques, and named aquqinanol C(1) and aquqinanol D(2). Both compounds are novel compounds. The neuroprotective effect of the compounds on CORT-induced PC12 cell damage was determined in vitro. The results showed that compounds 1 and 2 exhibited a certain protective effect against CORT-induced damage in PC12 cells.


Subject(s)
Rats , Animals , Qi , Sesquiterpenes/pharmacology , Molecular Structure
7.
China Occupational Medicine ; (6): 454-2022.
Article in Chinese | WPRIM | ID: wpr-965136

ABSTRACT

@#Abstract: Objective ( ) To evaluate the internal exposure levels and risk in nuclear medicine workers NMWs engaged in Methods radionuclide therapy in Guangdong Province. A total of 61 NMWs from eight hospitals in Guangdong Province were selected as the study subjects using the convenient sampling method. The 0.364 MeV full energy peak efficiency was detected in ( ) in vitro , - deltoid muscle of right upper arm as background and thyroid gland by direct measurement method and the iodine 131 (131 ) Results ,131 I activity in thyroid gland was calculated to evaluate the internal irradiation level. Among the 61 NMWs I was , detected in the thyroid gland of four nuclear medical staffs in three hospitals and the detection rate was 6.6%. The median and - [M( P-P )] 131 ( - ) 0 100 percentile 0 100 of thyroid I activity were 42.9 35.1 47.1 Bq. When assuming that the monitoring period was , M( P-P ) ( - ) , 30 days the 0 100 of single committed effective dose in thyroid gland was 0.014 0.011 0.015 mSv and the annual dose ( - ) Conclusion of internal irradiation was 0.162 0.132 0.180 mSv/a. The internal exposure of NMWs in the eight hospitals in ( ) , Guangdong Province meets the annual effective dose limits ≤20.000 mSv/a . However it is necessary to pay attention to the internal radiation protection of NMWs and take reasonable protective measures to reduce the internal exposure risk of NMWs.

8.
Chinese Journal of Clinical Nutrition ; (6): 79-86, 2022.
Article in Chinese | WPRIM | ID: wpr-955937

ABSTRACT

Objective:To analyze the prevalence and risk factors of pre-pregnancy underweight, overweight and obesity among women aged 18~49 years in China in 2013 and 2019 and the changing trends during this period.Methods:Pre-pregnancy examination data were collected for 9 220 664 women of reproductive age who participated in the National Free Pre-pregnancy Health Examination Project in 2013 and 2019, to analyze the prevalence and changing trends of underweight, overweight and obesity. Data from China Population Census in 2010 were applied to calculate the age-standardized prevalence of underweight, overweight and obesity. Logistic regression model was used to analyze the risk factors.Results:The prevalence of underweight, overweight and obesity among women aged 18-49 years in China was 7.47%, 21.05% and 6.08%, respectively. Over the seven years from 2013 to 2019, the prevalence of underweight in women of reproductive age had decreased, and the prevalence of overweight and obesity had increased significantly. Younger age, higher education level and ethnic minorities were the risk factors of underweight, while advanced age, farmers, previous gravidity and previous parity were the risk factors of overweight and obesity. Vegetarian, smoking and passive smoking might increase the risk of underweight, overweight and obesity.Conclusion:Women of reproductive age in China are faced with the dual challenge of malnutrition and overnutrition and the weight management before pregnancy should be strengthened for women of reproductive age.

9.
Chinese Journal of Cardiology ; (12): 150-153, 2022.
Article in Chinese | WPRIM | ID: wpr-935119

ABSTRACT

Objective: To explore the predictive value of the impedance measured during leadless pacemaker Micra implantation on the trend of changes of pacing threshold post implantation. Methods: This is a retrospective cross-sectional study. Patients who received implantation of leadless pacemaker Micra at the Second Xiangya Hospital of Central South University from December 2019 to August 2020 were enrolled. The clinical data and the intraoperative electrical parameters during leadless pacemaker implantation were collected. The impedance and pacing threshold data were analyzed at three time points: immediate release, 5-10 min after release, and after traction test. Receiver operating characteristic (ROC) curves and the area under the curve (AUC) were used to analyze the value of the impedance at immediate release on predicting the trend of changes of pacing threshold post implantation. Results: A total of 21 patients (mean age: (72.2±12.5) years, 12 males) were included. The impedance of 21 patients was (798.1±35.3) Ω immediately after implantation, (800.9±35.6) Ω after 5-10 minutes of release, and (883.6±31.7) Ω after traction test. Impedance was similar between the three time points (P>0.05). The threshold was (0.97±0.11) V/0.24 ms immediately after implantation, (0.95±0.12) V/0.24 ms at 5-10 min after the release, and (0.59±0.06) V/0.24 ms after the traction test. The threshold was significantly lower after the traction test than that immediately after release (P=0.003) and than that at 5-10 minutes after release (P=0.008), suggesting a decreased tendency of the threshold over time. According to the analysis of the ROC curve, the immediate impedance after the release ≥680 Ω could predict the ideal pacing threshold after the traction test (AUC=0.989, 95%CI 0.702-0.964, P<0.001), the prediction sensitivity was 87%, and the specificity was 100%. The pacing threshold would be not ideal with the immediate impedance ≤ 520 Ω (95%CI 0.893-1.000, P<0.001), the sensitivity was 100%, and the specificity was 80%. Conclusions: The impedance immediately after the release has predictive value for the changing trend of threshold post leadless pacemaker Micra implantation. Impedance ≥680 Ω immediately after release is often related with ideal pacing threshold after the traction test. In contrast, the impedance ≤ 520 Ω pacing is often related with unsatisfactory threshold after the traction test, therefore, it is recommended to find a new pacing site to achieve the impedance ≥680 Ω immediately after release during leadless pacemaker Micra implantation.


Subject(s)
Aged , Aged, 80 and over , Humans , Male , Middle Aged , Cardiac Pacing, Artificial , Cross-Sectional Studies , Electric Impedance , Pacemaker, Artificial , Retrospective Studies , Treatment Outcome
10.
Chinese Journal of Radiology ; (12): 656-660, 2022.
Article in Chinese | WPRIM | ID: wpr-932548

ABSTRACT

Objective:To investigate the feasibility and effect of retrograde thoracic duct approach via left venous angle in the treatment of chylothorax.Methods:From July 2019 to April 2021, the clinical data of 16 patients with chylothorax in Shanghai Pulmonary Hospital Tongji University were retrospectively collected. All patients underwent percutaneous inguinal lymphography, super selective retrograde thoracic duct catheterization was attempted via the left venous angle. Successful patients underwent direct thoracic ductography. After the position of the rupture was shown, the thoracic duct was embolized with microcoils and glue.Results:The inguinal lymphography of 16 patients was successful, and the end of thoracic ducts was identified. Retrograde thoracic duct catheterizations were successful in 10 patients, 6 cases showed contrast agent overflow in thoracic ductography, and the thoracic ducts were embolized using microcoils combined with glue. Chylothorax was improved in 16 patients, and 6 cases were completely cured. All patients had no serious complications.Conclusion:It is an effective and feasible method to treat chylothorax by retrograde thoracic ductography and embolization approach via left venous angle.

11.
Chinese Journal of Lung Cancer ; (12): 25-30, 2021.
Article in Chinese | WPRIM | ID: wpr-880235

ABSTRACT

Lung cancer is one of the malignant tumors with high incidence rate and high mortality worldwide. Telomere and telomerase are closely related to the occurrence and development of lung cancer. Although telomerase may not be the direct cause of carcinogenesis, it plays a key role in maintaining telomere length and tumor growth. The length of most tumors, including lung cancer, is shortened. The change of telomere length is related to the risk of lung cancer, and may become the therapeutic target and predictive index. Target drugs for telomere and telomerase signaling pathway are constantly being explored, and drugs represented by telomerase inhibitors are expected to be used in clinical treatment of lung cancer in the future. However, the research on telomere and telomerase is far from enough. The bypass mechanism of telomere length maintenance may be the direction of further research.
.

12.
Mycobiology ; : 406-420, 2021.
Article in English | WPRIM | ID: wpr-895037

ABSTRACT

Gloeostereum incarnatum has edible and medicinal value and was first cultivated and domesticated in China. We sequenced the G. incarnatum monokaryotic strain GiC-126 on an Illumina HiSeq X Ten system and obtained a 34.52-Mb genome assembly sequence that encoded 16,895 predicted genes. We combined the GiC-126 genome with the published genome of G. incarnatum strain CCMJ2665 to construct a genetic linkage map (GiC-126 genome) that had 10 linkage groups (LGs), and the 15 assembly sequences of CCMJ2665 were integrated into 8 LGs. We identified 1912 simple sequence repeat (SSR) loci and detected 700 genes containing 768 SSRs in the genome; 65 and 100 of them were annotated with gene ontology (GO) terms and KEGG pathways, respectively. Carbohydrate-active enzymes (CAZymes) were identified in 20 fungal genomes and annotated; among them, 144 CAZymes were annotated in the GiC-126 genome. The A mating-type locus (MAT-A) of G. incarnatum was located on scaffold885 at 38.9 cM of LG1 and was flanked by two homeodomain (HD1) genes, mip and beta-fg. Fourteen segregation distortion markers were detected in the genetic linkage map, all of which were skewed toward the parent GiC-126. They formed three segregation distortion regions (SDR1–SDR3), and 22 predictive genes were found in scaffold1920 where three segregation distortion markers were located in SDR1. In this study, we corrected and updated the genomic information of G. incarnatum. Our results will provide a theoretical basis for fine gene mapping, functional gene cloning, and genetic breeding the follow-up of G. incarnatum.

13.
Chinese Journal of Endocrinology and Metabolism ; (12): 1075-1081, 2021.
Article in Chinese | WPRIM | ID: wpr-933352

ABSTRACT

Objective:To explore the association between abnormal thyroid stimulating hormone (TSH) and elevated blood pressure among females of child-bearing potential.Methods:A total of 294 674 females of child-bearing age who participated in pre-pregnancy health examination in Shenzhen from 2013 to 2019 were selected. Demographic characteristics, blood pressure, TSH, fasting blood glucose and other indexes were collected. Multivariate logistic regression model was used to analyze the association between abnormal TSH levels and elevated blood pressure (including prehypertension and hypertension).Results:This study showed that females of child-bearing potential with prehypertension and hypertension accounted for 21.77% and 2.41%, respectively. Compared with females of child-bearing potential with normal TSH, the risk of prehypertension and hypertension increased by 34.0% ( OR=1.340, 95% CI 1.248-1.438) and 59.6% ( OR=1.596, 95% CI 1.301-1.938) among those with decreased TSH, respectively, whereas the risk of prehypertension and hypertension increased by 13.6% ( OR=1.136, 95% CI 1.076-1.198) and 38.0% ( OR=1.380, 95% CI 1.198-1.581) among those with elevated TSH, respectively. Subgroup analysis showed that abnormal TSH levels in most subgroups, such as age, ethnicity, educational level, occupation, spouse smoking, alcohol drinking, body mass index, and fasting blood glucose, were associated with the risk of elevated blood pressure. Heterogeneity test showed that the association between decreased TSH and elevated blood pressure was higher in females with high school and below or alcohol drinking, and the association between elevated TSH and elevated blood pressure was higher in females with college/bachelor′s degree and above or non-smoking spouse. Conclusion:There is a significant association between abnormal TSH levels and the risk of prehypertension and hypertension in females of child-bearing potential, and the association should be explored with stratified educational level, alcohol drinking, and spouse smoking status.

14.
Chinese Journal of Nephrology ; (12): 168-175, 2021.
Article in Chinese | WPRIM | ID: wpr-885491

ABSTRACT

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

15.
Mycobiology ; : 406-420, 2021.
Article in English | WPRIM | ID: wpr-902741

ABSTRACT

Gloeostereum incarnatum has edible and medicinal value and was first cultivated and domesticated in China. We sequenced the G. incarnatum monokaryotic strain GiC-126 on an Illumina HiSeq X Ten system and obtained a 34.52-Mb genome assembly sequence that encoded 16,895 predicted genes. We combined the GiC-126 genome with the published genome of G. incarnatum strain CCMJ2665 to construct a genetic linkage map (GiC-126 genome) that had 10 linkage groups (LGs), and the 15 assembly sequences of CCMJ2665 were integrated into 8 LGs. We identified 1912 simple sequence repeat (SSR) loci and detected 700 genes containing 768 SSRs in the genome; 65 and 100 of them were annotated with gene ontology (GO) terms and KEGG pathways, respectively. Carbohydrate-active enzymes (CAZymes) were identified in 20 fungal genomes and annotated; among them, 144 CAZymes were annotated in the GiC-126 genome. The A mating-type locus (MAT-A) of G. incarnatum was located on scaffold885 at 38.9 cM of LG1 and was flanked by two homeodomain (HD1) genes, mip and beta-fg. Fourteen segregation distortion markers were detected in the genetic linkage map, all of which were skewed toward the parent GiC-126. They formed three segregation distortion regions (SDR1–SDR3), and 22 predictive genes were found in scaffold1920 where three segregation distortion markers were located in SDR1. In this study, we corrected and updated the genomic information of G. incarnatum. Our results will provide a theoretical basis for fine gene mapping, functional gene cloning, and genetic breeding the follow-up of G. incarnatum.

16.
Chinese Journal of Laboratory Medicine ; (12): 653-658, 2020.
Article in Chinese | WPRIM | ID: wpr-871952

ABSTRACT

Objective:This study mainly discussed the clinical characteristics, autoimmune status and lymphocyte subsets of patients with Takayasu arteritis (TA) without hormone and immunosuppressive therapy, in order to provide guidance for immunotherapy.Methods:Using cross-sectional study, twenty-nine patients with TA admitted to the Department of Rheumatology and the Department of Vasculitis of Beijing Anzhen Hospital from January 2018 to November 2019 were selected, including 28 females and 1 male, with the middle age of 39 year. These patients met the diagnostic criteria of American Society of Rheumatology for TA, and were not treated with hormone and immunosuppressant. Clinical data of these patients were collected, and the immunological indexes and lymphocyte subsets of peripheral blood were detected simultaneously. At the same time, the immunological indexes and peripheral blood lymphocyte subsets of 21 healthy normal people were detected as control. Chi square test, independent sample t test and nonparametric test were used for analysis. Results:Among the 29 patients with TA, 28 were female, 26 were in the active stage of disease; the main manifestations of systemic symptoms were malaise (62.07%) and headache (41.38%), the main manifestations of vascular symptoms were bruits and pulse weakening (68.97%), and the most of Numano type was V type (79.31%). The absolute value of total T (CD3) lymphocytes [(1 337.14±312.46)μl vs (1 139.95±340.96)μl, t=2.120, P=0.039], the percentage [46.29%±6.55% vs 36.55%±7.42%, t=4.903, P<0.000 1] and the absolute value [(815.52±194.11)μl vs (571.44±187.55)μl, t=4.450, P<0.000 1] of helper T (CD4) lymphocytes, the ratio of CD4/CD8 [1.83 (1.41-2.30) vs 1.32 (1.03-1.39), Z=3.401, P=0.001] were higher compared with those of healthy controls, while the percentage of natural killer (NK) cells (CD56) [10.71%(6.45%-14.30%) vs 14.57%(10.87%-18.47%), Z=2.408, P=0.016] decreased. The complement C3 [1.16 (1.02-1.31) g/L vs 1.05 (0.93-1.15) g/L, Z=2.383, P=0.021] in patients with TA was higher than those in healthy controls and immunoglobulin (Ig) G [11.97 (8.74-14.43) g/L vs 14.37 (13.11-15.47) g/L, Z=3.017, P=0.003] in patients with TA was lower than those in healthy controls. Compared with the control group, the ESR [19.31 (9.50-28.50) mm/h vs 3.71 (2.00-5.00) mm/h, Z=5.338, P<0.000 1], hs-CRP [6.52 (0.32-8.62) mg/L vs 0.73 (0.35-1.07) mg/L, Z=2.983, P=0.003] and Q-CRP [8.73 (1.03-7.72) mg/L vs 0.57 (0.08-0.98) mg/L, Z=4.263, P<0.000 1] of patients with TA were all increased. Conclusions:The autoimmunity of patients with TA without hormone or immunosuppressant treatment is in active state, and the total T-lymphocytes and helper T-lymphocytes in peripheral blood are significantly increased in order to cope with the inflammatory response of the systemic artery vessels.

17.
Journal of Medical Biomechanics ; (6): E679-E684, 2020.
Article in Chinese | WPRIM | ID: wpr-862327

ABSTRACT

Objective To study the effect of ankle taping (restriction of ankle varus and plantar flexion) on biomechanical characteristics of the knee during drop landing on the dominant leg. Methods Eighteen amateur athletes performed the dominant-legged drop landing under two different ankle conditions (with or without taping). Vicon three-dimensional (3D) motion capture system, Kistler force plate and Noraxon surface electromyography (sEMG) system were used to collect kinetic, kinematic and sEMG data for statistical analysis. Results Compared with control group, ankle taping significantly increased flexion angle at initial contact and maximum flexion angle, while significantly decreased the maximum valgus angle. Conclusions The restriction of varus and plantar flexion might reduce the risk of anterior cruciate ligament (ACL) injury. The intervention with ankle taping could modify biomechanical parameters of the knee during drop landing. The ankle taping by restriction of ankle varus and plantar flexion may be an effective measure to prevent ACL injury for collegiate athletes.

18.
Chinese Journal of Clinical Oncology ; (24): 309-313, 2020.
Article in Chinese | WPRIM | ID: wpr-861570

ABSTRACT

Cancer-associated venous thromboembolism (VTE) is a common complication and cause of death in patients with cancer. Therefore, strategies to prevent the occurrence of VTE have increasingly attracted attention. Prophylactic anticoagulant therapy can reduce the risk of VTE in patients with cancer. It is necessary to completely evaluate the benefits and potential adverse reactions and eliminate any contraindications of anticoagulant therapy before prophylactic anticoagulant therapy is administered to high-risk patients.

19.
Chinese Pharmaceutical Journal ; (24): 656-662, 2020.
Article in Chinese | WPRIM | ID: wpr-857736

ABSTRACT

OBJECTIVE: To explore the distribution characteristics of chemotherapy drug-related single nucleotide polymorphisms(SNPs) in cancer patients in our hospital, and to provide the clinical reference for clinical pharmacists to guide the individualized therapy of cancer patients based on SNPs. METHODS: Fluorescence-labelled specific probes were used to detect drug-related genes by fluorescence in situ hybridization. The drug-related SNPs of cancer patients from Apr 2016 to Dec 2018 in Peking University Cancer Hospital were retrospectively analyzed. SPSS24.0 software was used to statistically analyze the difference in the frequency distribution of alleles and genotypes, and the Hardy-Weinberg equilibrium test. The distribution characteristics of related gene loci in cancer patients in our hospital regarding the genotype frequency of different populations were studied. RESULTS: A total of 17 chemotherapy drug-related gene loci were detected in 2 554 patients. CYP2D6(100C>T) and ABCB1(2677T>G) were not consistent with Hardy-Weinberg equilibrium, while the remaining 15 loci were in Hardy-Weinberg equilibrium. The allele frequencies of DPD, CYP2D6 and UGT1A1 of the Chinese population are significantly different from those of foreign population, which are consistent with internal reports. CONCLUSION: The distribution of chemotherapy drug-related SNPs in Chinese tumor patients performs its characteristics. Clinical pharmacists should provide individualized medication advisements according to chemotherapy drug-related SNPs. Based on the application of pharmacogenomics, while referring to international databases such as PharmGKB, the interpretation of SNPs of the Chinese population should be combined with the characteristics of the Chinese population, and the database of the different population cannot be fully referenced.

20.
Chinese Journal of Lung Cancer ; (12): 609-614, 2020.
Article in Chinese | WPRIM | ID: wpr-826934

ABSTRACT

Mesenchymal-epithelial transition factor (MET) gene is an important tumor driver gene of non-small cell lung cancer (NSCLC). Drugs targeting MET 14 exon skipping mutation bring new hope to patients. MET inhibitors that are currently on the market or are about to be marketed include: crizotinib, cabozantinib, savolitinib and tepotinib. The objective response rate of MET inhibitors is high, and the safety is good. However, resistance of MET-tyrosine kinase inhibitor (TKI) is inevitable, so it is necessary to pay attention to the study of drug resistance mechanism. In addition, the combined use of hepatocyte growth factor (HGF)/MET inhibitors and other drugs may play an important role in inhibiting and reversing drug resistance.

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