Objective: To discuss the influence of Tongfengning Capsule (TFN) in the rats with acute gouty arthritis, and to clarify the curative effect and mechanism of TFN in the acute gouty arthritis rats. Methods: The rat model of acute gouty arthritis was induced by injection of microcrystal sodium urate solution into articular cavity of the ankle joint. A total of 48 mice were divided into blank control group, model group, low (100 mg · kg-1), middle (200 mg · kg-1) and high 550 mg · kg-1) doses of TFN groups, colchicine (0.63 mg · kg-1) positive drug control group; 8 rats in each group. The degrees of joint swelling of the rats were monitored at different time after modeling. The number of white blood cells (WBC), lymphocytes and neutrophils in the whole blood of the rats in various groups were detected, and the nitric oxide (NO) levels in the serum and homogenate as well as serum uricacid (UA) were detected. The levels of IL-1β and TNF-a in the soft tissue and synovial fluid around the ankle joint of the rats in various groups were measured. Results: Compared with model group, the swelling degrees of ankle joint of the rats in positive drug control group and high dose of TFN group were significantly decreased in 0 - 8 h (P<0.05 or P<0.01), especially in 4 h (P<0.01); but there were no significant differences in low and medium doses of TFN groups (P > 0.05). Compared with model group, the levels of WBC, lymphocytes and neutrophils in the blood of the rats in positive drug control group and TFN groups were decreased, especially in high dose of TFN group (P<0.05). The UA levels in serum of the rats in positive drug control group and high dose of TFN group were significantly lower than that in model group (P<0.05 or P<0.01), and the levels of serum NO was increased (P<0.05); but there were no significant differences in low and medium doses of TFN groups (P<0.05). The levels of NO, IL-1β and TNF-a in soft tissue and synovial fluid of the rats in positive drug control group and high dose of TFN group were significantly lower than those in model group (P<0.05 or P< 0.01); but there were no significant differences in low and medium doses of TFN groups (P<0.05). Conclusion: TFN has a remarkable effect in the treatment of gouty arthritis, and this effect may be associated with inhibiting the inflammatory reactions.

Objective:To discuss the influence of Tongfengning Capsule (TFN) in the levels of uricacid (UC),creatinine (Cr) and urea nitrogen (BUN) in mouse serum and the activities of the xanthine oxidase (XOD),adenosine deaminase (ADA) activity in the liver homogenate of the mice with hyperuricemia,and to observe the improvement effect of TFN on the pathological changes of liver tissue and to clarify its mechanisms.Methods:The models of mouse hyperuricemia were induced by yeast extract with potassium oxonate.Seventy mice were divided into blank control group,model group,low (200 mg · kg 1),medium (400 mg · kg-1) and high (800 mg · kg-1) doses of TFN groups,allopurinol positive drug control group (50 mg · kg-1),Tongfengshu (TFS,600 mg · kg-1) positive drug control group (n=10).The levels of UC,Cr,BUN in serum and the activities of XOD,ADA in homoggenate were detected and the histopathological changes of the kidney tissue of the mice were measured with HE staining.Results:Compared with blank control group,the levels of serum UC,Cr and BUN ofthe mice in model group were significantlyincreased (P＜0.01),and the activities of XOD and ADA in liver tissue were also increased (P＜0.01).Compared with model group,the levels of serum UC,Cr and BUN of the mice in positive drug control groups and different doses of TFN groups were decreased (P＜0.01),and the activities of XOD and ADA in liver tissue were also decreased (P＜0.05),especially in high dose of TFN group.Compared with model group,the pathologic changes such as renal glomerulus atrophy,renal interstitial fibrosis and expansion of renal tubule of the mice in positive drug control groups and high dose of TFN group were improved to a certain extent.Conclusion:TFN has improvement effcet on the hyperuricemia in the mice and its mechanism is related to the inhibition of uricogenesis and the promotion of UC excretion.

Objective To investigate chromosomal abnormalities in fetuses with conotruncal defects(CTD).Methods From January 2013 to February 2017,107 fetuses (singleton pregnancy) prenatally diagnosed as CTD in Beijing Anzhen Hospital were enrolled.Umbilical cord specimens of these fetuses were collected after termination of pregnancy and analyzed by low coverage whole gene sequencing to detect chromosomal aneuploidy and copy number variations.Types of chromosomal abnormalities in these cases were analyzed.Chi-square test was used for statistical analysis.Results Twenty-two cases (21％,22/107) were identified with chromosomal abnormalities.The most common seen chromosomal abnormalities were found in those with interrupted aortic arch (2/2),followed by those with tetralogy of Fallot and pulmonary atresia/stenosis accompanied with ventricular septal defect (28％,12/43).No chromosomal abnormalities were detected in fetuses with aortopulmonary septal defect (0/2).Differences were shown in the detection rates of chromosomal abnormalities among different types of CTD (x2=12.744,P=0.026).Among the 22 fetuses with chromosomal abnormalities,there were seven with abnormal aneuploidy (three trisomy-13s,two trisomy-18s,one trisomy-21 and one 45,X) and 15 with pathogenic copy number variations [11 cases with 22q11.2 microdeletion syndrome,two with 17p12p11.2 microdeletion (Smith-Magenis syndrome),one with 8p23.3p21.3 microduplication and one with 2p23.1p25.2 microdeletion].Of the 15 cases with pathogenic copy number variations,12 segments of microdeletion/microduplications were de novo and one was paternally inherited,while the causes of the other two were not clear because their parents refused chromosomal testing.Conclusions Fetal CTD are likely to be accompanied with aneuploidy abnormalities and chromosome microdeletions/microduplications and the detection rate of chromosomal abnormalities varied with the type of CTD.Microdeletion and microduplication,especially de novo microdeletions/duplications,are the common chromosomal abnormalities.Chromosome analysis is recommended for fetuses prenatally diagnosed with CTD.

OBJECTIVE: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes. METHODS: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed. RESULTS: The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously. CONCLUSION Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans ; Loeys-Dietz Syndrome/genetics* ; Receptor, Transforming Growth Factor-beta Type I/genetics* ; Receptor, Transforming Growth Factor-beta Type II/genetics* ; Transforming Growth Factor beta3 ; Face