Analysis on Difference of Medicinal Properties Between Atractylodes lancea and A. chinensis Based on Correlation of Energy Metabolism and Dryness / 中国实验方剂学杂志

ObjectiveTo explore the correlation between dryness and energy metabolism of Atractylodis Rhizoma， and to analyze the difference of medicinal properties between Atractylodes lancea and A. chinensis. MethodA total of 110 healthy SD rats were randomly divided into 11 groups， including normal group， volatile oil of A. lancea 1-5 group （S1-S5 group， doses of 447， 473， 442， 489， 496 mg·kg-1） and volatile oil of A. chinensis 1-5 group （N1-N5 group， doses of 197， 118， 281， 222， 185 mg·kg-1）， the administration volume was 0.01 mL·g-1 with intragastric administration for 21 days. Dryness effect of A. lancea and A. chinensis on rats was evaluated by comparing the body weight， drinking water volume， urine volume， whole blood viscosity and pathological sections of submandibular gland stained with hematoxylin-eosin （HE）. The expression of aquaporin 2 （AQP2） in rat kidney was measured by immunohistochemistry， the mRNA expressions of cytochrome C oxidase subunit 7A2 （COX7A2） and succinate dehydrogenase （SDH） complex subunit D （SDHD） in liver tissue were detected by real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）. The contents of SDH， lactate dehydrogenase （LDH） and sodium ion-potassium ion-adenosine triphosphatase （Na+-K+-ATPase） in rat plasma were determined by colorimetry. The quality of A. lancea and A. chinensis was evaluated by coefficient of variation method， and Pearson correlation coefficient was used to analyze the correlation between dryness and energy metabolism. ResultCompared with the normal group， the amounts of drinking water and urine in volatile oil of A. lancea group and volatile oil of A. chinensis group increased， and the submandibular gland acini atrophied， the whole blood viscosity of rats in the volatile oil of A. lancea group increased significantly （P<0.01）， the expression levels of COX7A2 and SDHD mRNA， the activities of SDH， LDH and Na+-K+-ATPase increased significantly （P<0.01）， and the expression of AQP2 in kidney decreased significantly （P<0.01）. Compared with the normal group， the expression level of COX7A2 mRNA， SDH activity and whole blood viscosity in the volatile oil of A. chinensis group increased （P<0.05， P<0.01）， the AQP2 and SDH mRNA expression levels， LDH and Na+-K+-ATPase activities had no significant difference. The comprehensive score analysis of each index showed that the effect of volatile oil of A. lancea on dryness and energy metabolism was stronger than that of volatile oil of A. chinensis， and there was a positive correlation between dryness index and energy metabolism index. ConclusionThe two indexes show that medicinal properties of A. lancea is stronger than that of A. chinensis， and energy metabolism is closely related to the dryness of Atractylodis Rhizoma. It is suggested that it is reasonable to evaluate the dryness effect of Atractylodis Rhizoma from the perspective of energy metabolism， which can further enrich the evaluation indexes of medicinal properties.

Analysis on Difference of Medicinal Properties Between Atractylodes lancea and A. chinensis Based on Correlation of Energy Metabolism and Dryness / 中国实验方剂学杂志

ObjectiveTo explore the correlation between dryness and energy metabolism of Atractylodis Rhizoma， and to analyze the difference of medicinal properties between Atractylodes lancea and A. chinensis. MethodA total of 110 healthy SD rats were randomly divided into 11 groups， including normal group， volatile oil of A. lancea 1-5 group （S1-S5 group， doses of 447， 473， 442， 489， 496 mg·kg-1） and volatile oil of A. chinensis 1-5 group （N1-N5 group， doses of 197， 118， 281， 222， 185 mg·kg-1）， the administration volume was 0.01 mL·g-1 with intragastric administration for 21 days. Dryness effect of A. lancea and A. chinensis on rats was evaluated by comparing the body weight， drinking water volume， urine volume， whole blood viscosity and pathological sections of submandibular gland stained with hematoxylin-eosin （HE）. The expression of aquaporin 2 （AQP2） in rat kidney was measured by immunohistochemistry， the mRNA expressions of cytochrome C oxidase subunit 7A2 （COX7A2） and succinate dehydrogenase （SDH） complex subunit D （SDHD） in liver tissue were detected by real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）. The contents of SDH， lactate dehydrogenase （LDH） and sodium ion-potassium ion-adenosine triphosphatase （Na+-K+-ATPase） in rat plasma were determined by colorimetry. The quality of A. lancea and A. chinensis was evaluated by coefficient of variation method， and Pearson correlation coefficient was used to analyze the correlation between dryness and energy metabolism. ResultCompared with the normal group， the amounts of drinking water and urine in volatile oil of A. lancea group and volatile oil of A. chinensis group increased， and the submandibular gland acini atrophied， the whole blood viscosity of rats in the volatile oil of A. lancea group increased significantly （P<0.01）， the expression levels of COX7A2 and SDHD mRNA， the activities of SDH， LDH and Na+-K+-ATPase increased significantly （P<0.01）， and the expression of AQP2 in kidney decreased significantly （P<0.01）. Compared with the normal group， the expression level of COX7A2 mRNA， SDH activity and whole blood viscosity in the volatile oil of A. chinensis group increased （P<0.05， P<0.01）， the AQP2 and SDH mRNA expression levels， LDH and Na+-K+-ATPase activities had no significant difference. The comprehensive score analysis of each index showed that the effect of volatile oil of A. lancea on dryness and energy metabolism was stronger than that of volatile oil of A. chinensis， and there was a positive correlation between dryness index and energy metabolism index. ConclusionThe two indexes show that medicinal properties of A. lancea is stronger than that of A. chinensis， and energy metabolism is closely related to the dryness of Atractylodis Rhizoma. It is suggested that it is reasonable to evaluate the dryness effect of Atractylodis Rhizoma from the perspective of energy metabolism， which can further enrich the evaluation indexes of medicinal properties.

Parental origin verification through chromosomal microarray analysis to determine the clinical significance of copy number variations / 中华围产医学杂志

Objective:To explore the role of parental origin verification in chromosomal microarray analysis (CMA) on the determination of the clinical significance of copy number variations (CNVs).Methods:This retrospective study collected clinical information from 73 core families who underwent prenatal diagnosis at Peking University First Hospital from November 2017 to December 2019. Indications for prenatal diagnosis included ultrasound abnormality in 54 cases (including 12 with thickened nuchal translucency (≥2.5 mm), four with fetal growth restriction, seven with abnormal pregnancy history, and 31 with isolated ultrasound abnormality), NIPT indicated high-risk in four cases, advanced age in nine cases, abnormal pregnancy history alone in three cases, intrauterine death in two cases and one with maternal mental retardation. Genomic DNA of amniotic fluid sample, chorionic villi, cord blood, fetal tissues, and fetal heart blood were extracted using genomic DNA extraction kit. The CNVs of prenatal samples in 73 subjects were analyzed using array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array). Peripheral blood DNA of the couples, and relevant families if necessary, were collected and analyzed in the same way. The results of parental origin detection in CMA were summarized.Results:A total of 76 CNVs were detected in these 73 samples, out of which nine were pathogenic and parental origin detection revealed that six were de novo, two were maternally, and one was paternally inherited; six CNVs were likely pathogenic, including three de novo, two maternally inherited and one paternally inherited; 20 CNVs were variants of uncertain significance, including five paternally inherited, three maternally inherited and 12 de novo; 41 CNVs were likely benign, among which 38 were inherited from parents with normal phenotype. Conclusions:Parental origin verification plays an important role in explaining the clinical significance of detected fetal CNVs and thereby can help to analyze its clinical effect and reproductive risk.

Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing.@*METHODS@#Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree.@*RESULTS@#NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene.@*CONCLUSION@#The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.

Correlations between emotions and self-concept in patients with traumatic brain injury / 现代临床护理

Objective To explore the correlations between emotions and self-concept in patients with traumatic brain injury. Method The Chinese version of the Positive and Negative Affect Scale and the Tennessee Self-Concept Scale was used to test 178 patients with traumatic brain injury.Results The mean scores on positive and negative emotions were (1.93±0.53) and (2.76±0.61), respectively. The mean score on self-concept was (2.45±0.31). The positive emotions of patients were positively correlated with the level of self-concept and the negative emotions negatively with the level of self-concept (r=0.437and -0.363respectively,bothP<0.01). Conclusions For patients with traumatic brain injury,the negative emotions outnumber the positive emotions and their self-concept was at lower level. Nurses should take measures to improve their positive emotions and reduce their negative emotions in order to improve their self-concept level.

Affect of RNF8 genetic variants and interactions with cigarettes smoking and alcohol consumption on sperm DNA fragment index and primary male infertility / 重庆医学

Objective To evaluate the effect of two polymorphisms(rs761737 and rs2269058) of RNF8 and the interactions with cigarette smoking and alcohol consumption on sperm DNA fragment index (DFI)and primary male infertility .Methods Based on case-control design ,polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology was used to de-tect the genotype of rs761737 and rs2269058 in RNF8 between 332 primary male infertile patients (composed by 87 patients of azoospermia ,166 patients of oligoasthenozoospermia and 79 patients of normozoospermia ) and 329 controls ,and Sperm Chromatin Dispersion(SCD) assay was used to assess sperm DNA fragment index (DFI) .Results Genotype and allele frequencies distribution of rs761737 and rs2269058 between cases and controls had no statistically significant difference (P>0 .05) .Sperm DFI in infertile group (46 .2 ± 22 .3)% was significantly higher than that of control group (21 .4 ± 9 .2)% (P0 .05) .There was an inter-action between RNF8 rs2269058 and Cigarettes smoking(P<0 .05 ,OR=2 .37 ,95% CI 1 .06-5 .27) .Conclusion Although RNF8 rs761737 and rs2269058 have no effects on primary male infertility and sperm DFI ,cigarettes smoking increase the risk of primary male infertility in individuals who carry RNF8 rs2269058 AC+AA genotype .Sperm DFI is an important test to assess sperm quali-ty ,it is vital to reveal the etiology of primary male infertility and provide therapy guidance to clinicians .