Objective:To compare the efficacy of high density grid mapping catheter (HD-Grid) and circular mapping catheter in the ablation of paroxysmal atrial fibrillation.Methods:Patients with paroxysmal atrial fibrillation undergoing radiofrequency ablation in Xingtai People′s Hospital from March 2020 to March 2021 were randomly divided into the HD-Grid group and the circular mapping catheter group. The baseline data, operation time, X-ray exposure time, pulmonary vein isolation time, recovery of pulmonary vein conduction, the number of recovery sites, and perioperative complications were compared between the two groups. The patients were followed up at 1, 3, 6 and 12 months after operation, and a continuous electrocardiogram was performed to evaluate recurrence of atrial fibrillation.Results:Sixty patients were enrolled in the study with 30 cases in each group, including 33 males and 27 females with an average age of 63.0 (57.0, 70.3) years. There were no significant differences in age, gender ratio, comorbidity proportion, CHADS 2-VASC score, history of atrial fibrillation, B-type natriuretic peptide level, and left atrial diameter between the two groups (all P>0.05). The operation time of the HD-Grid group was longer than that of the circular mapping catheter group ((136.6±7.7) minutes vs. (127.5±7.7) minutes, P<0.001). During the observation period, 8 cases (26.67%) with pulmonary venous conduction recovery were identified in the HD-Grid group, which was higher than that in the circular mapping catheter group (2 cases(6.67%)) ( P=0.038). Eighteen (60.00%) pulmonary vein reconnection sites were identified in the HD-Grid group, which were more than that in the circular mapping catheter group (2 sites(6.67%), P=0.013). There was no significant difference in X-ray exposure time and pulmonary vein isolation time between the two groups (both P>0.05). There was no significant difference in the proportion of patients taking anticoagulant drugs and antiarrhythmic drugs during the perioperative period between the two groups (both P>0.05). No serious complications such as cardiac tamponade, phrenic nerve injury, pulmonary embolism, cerebral infarction and death occurred in both groups. During the follow-up period, 1 patient (3.33%) in the HD-Grid group had recurrence of atrial fibrillation, while 5 patients (16.67%) in the circular mapping catheter group had recurrence of atrial fibrillation, but there was no significant difference between the two groups ( P=0.197). Conclusions:HD-Grid for radiofrequency ablation of paroxysmal atrial fibrillation improves the identification rate of pulmonary vein potentials and pulmonary vein reconnection sites, and it may reduce the recurrence rate of atrial fibrillation. Although the operation time was prolonged, it would not increase the risk of perioperative complications.

OBJECTIVE: To explore the genetic basis for 7 families with gonadal mosaicism for Duchenne muscular dystrophy (DMD). METHODS: For the 7 families presented at the CITIC Xiangya Reproductive and Genetic Hospital from September 2014 to March 2022, clinical data were collected. Preimplantation genetic testing for monogenic disorders (PGT-M) was carried out for the mother of the proband from family 6. Peripheral venous blood samples of the probands, their mothers and other patients from the families, amniotic fluid samples from families 1 ~ 4 and biopsied cells of embryos cultured in vitro from family 6 were collected for the extraction of genomic DNA. Multiplex ligation-dependent probe amplification (MLPA) was carried out for the DMD gene, and short tandem repeat (STR)/single nucleotide polymorphism (SNP)-based haplotypes were constructed for the probands, other patients, fetuses and embryos. RESULTS: The results of MLPA showed that the probands and the fetuses/probands' brothers in families 1 ~ 4, 5, 7 had carried the same DMD gene variants, whilst the probands' mothers were all normal. The proband in family 6 carried the same DMD gene variant with only 1 embryo (9 in total) cultured in vitro, and the DMD gene of the proband's mother and the fetus obtained through the PGT-M were normal. STR-based haplotype analysis showed that the probands and the fetuses/probands' brothers in families 1 ~ 3 and 5 have inherited the same maternal X chromosome. SNP-based haplotype analysis showed that the proband from family 6 has inherited the same maternal X chromosome with only 1 embryo (9 in total) cultured in vitro. The fetuses in families 1 and 6 (via PGT-M) were both confirmed to be healthy by follow up, whilst the mothers from families 2 and 3 had chosen induced labor. CONCLUSION Haplotype analysis based on STR/SNP is an effective method for judging gonad mosaicism. Gonad mosaicisms should be suspected for women who have given births to children with DMD gene variants but with a normal peripheral blood genotype. Prenatal diagnosis and reproductive intervention may be adapted to reduce the births of further affected children in such families.
Male ; Pregnancy ; Child ; Humans ; Female ; Muscular Dystrophy, Duchenne/diagnosis* ; Dystrophin/genetics* ; Mosaicism ; Exons ; Prenatal Diagnosis/methods* ; Nucleotides

OBJECTIVE: To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age. METHODS: A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed. RESULTS: One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria. CONCLUSION This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.
Asians/genetics* ; China ; Exome ; Female ; Humans ; Infant, Newborn ; Metabolic Diseases/genetics* ; Mitochondrial Membrane Transport Proteins/genetics* ; Oxidoreductases/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR). METHODS: For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis. RESULTS: Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations. CONCLUSION FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.
Female ; Fragile X Mental Retardation Protein/metabolism* ; Fragile X Syndrome/genetics* ; Humans ; Ovarian Diseases ; Ovarian Reserve/genetics* ; Primary Ovarian Insufficiency/genetics* ; Trinucleotide Repeats/genetics*

Objective:To control the quality of the reference sample of Wenjingtang by establishing the specific chromatograms. Method:On the basis of analyzing 15 batches of Wenjingtang freeze-dried powder samples， a high performance liquid chromatography （HPLC） specific chromatogram analysis method of Wenjingtang was established. The system adaptability was investigated and the retention time， relative retention value and deviation caused by different chromatographic columns and instruments were calculated by using the same brand of chromatographic columns， four different brands of chromatographic columns and instruments from three different manufacturers. The precision， repeatability and stability of this method was further completed. The possible chemical components of the freeze-dried powders were speculated and identified by ultra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry （UPLC-Q-TOF-MSⁿ）. Chromatographic separation was performed on ACQUITY UPLC BEH C₁₈ column （2.1 mm×100 mm， 1.7 μm） with acetonitrile （A）-0.1% formic acid aqueous solution （B） as mobile phase for gradient elution （0-2.8 min， 10%A； 2.8-8.0 min， 10%-18%A； 8.0-12.2 min， 18%-25%A； 12.2-15.3 min， 25%-40%A； 15.3-17.4 min， 40%A； 17.4-20.5 min， 40%-90%A）， and column temperature was set at 30 ℃ with flow rate of 0.4 mL·min^-1. Mass spectrometry was performed on electrospray ionization， data were collected under positive and negative ion modes， and the detection range was m/z 50-1 600. Result:Ten characteristic peaks were selected as the distinguishing features in this specific chromatograms， and eight of them were identified by comparing with the reference standards， including paeoniflorin （peak 1）， liquiritin apioside （peak 2）， liquiritin （peak 3）， ferulic acid （peak 4）， iquiritigenin （peak 6）， cinnamaldehyde （peak 8）， paeonol （peak 9）and glycyrrhizic acid （peak 10）. By mass spectrometry analysis， 30 compounds were identified， and the source of medicinal materials were assigned. It mainly contained triterpenoid saponins and flavonoids from Glycyrrhizae Radix et Rhizoma， ginsenosides from Ginseng Radix et Rhizoma， monoterpenoid glycosides and tannins from Paeoniae Radix Alba， steroids in Achyranthis Bidentatae Radix， phenolic acids in Angelicae Sinensis Radix. Conclusion:The established characteristic chromatographic analysis method of Wenjingtang is simple， stable and repeatable. The chemical composition of the freeze-dried powder of Wenjingtang is basically defined by mass spectrometry identification and source attribution， which can provide reference for the development and quality control of Wenjingtang in the future.

Based on the textual research on literature, the key information of Wenjing Decoction were tested and identified, and 15 batches of lyophilized powder samples of Wenjing Decoction were prepared. The specific components, including paeoniflorin, glycyrrhizin, ginsenosides(Rg_1, Re and Rb_1), glycyrrhizic acid, and paeonol, were used as indexes to establish the HPLC method for quantitative evaluation, and the content ranges and transfer rates of these components were determined. The results showed that the contents of paeoniflorin, glycyrrhizin, ginsenosides Rg_1 + Re, ginsenoside Rb_1, glycyrrhizic acid, and paeonol in the 15 batches of samples were 0.62%-0.86%, 0.25%-0.76%, 0.14%-0.30%, 0.07%-0.21%, 0.63%-1.16%, and 0.09%-0.25%, respectively, and their transfer rates from the decoction pieces to the reference materials were 14.99%-19.42%, 28.11%-40.93%, 25.92%-61.88%, 25.03%-64.06%, 23.43%-35.53%, and 5.34%-10.44%, respectively. The consistency of the transfer rates between batches indicated that the preparation process was stable. It is suggested that the contents of paeoniflorin, glycyrrhizin, ginsenosides Rg_1 + Re, ginsenoside Rb_1, glycyrrhizic acid, and paeonol in Wenjing Decoction should not be less than 0.52%, 0.35%, 0.15%, 0.10%, 0.63%, and 0.12%, respectively. In this study, we determined the contents and analyzed the quantity transfer process of the index components in Wenjing Decoction, which can provide a basis for the follow-up development of Wenjing Decoction and the quality control of related preparations.
Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; Glycyrrhizic Acid ; Powders ; Quality Control

Biomarkers ; metabolism ; CD4-Positive T-Lymphocytes ; immunology ; metabolism ; Cytomegalovirus Retinitis ; immunology ; Female ; Humans ; Male ; Polymerase Chain Reaction ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; immunology ; metabolism ; virology

Phytochemical investigation on Ilex asprella stems by using various chromatographic techniques led to the isolation of 18 phenolic constituents. Based on spectroscopic data analyses and/or comparison of the spectroscopic data with those in literature, these constituents were identified, including two lignans (1, 2), five phenylpropanes (3-7), six chlorogenic analogues (8-13), and five benzoic analogues (14-18). Among them, compounds 3-7, 9, 11, 13, 14, 17, and 18 were isolated from genus Ilex for the first time, and 2, 8, 10, 15, and 16 were isolated from this species for the first time. The in vitro anti-inflammatory assay results showed that compounds 8, 9, 11, 13, and 15 possessed moderate inhibition on the NO production in RAW264.7 cells with IC₅₀ values of 51.1-85.8 μmol·L⁻¹. The present study brought preliminary reference for the clarification of therapeutic ingredients of I. asprella with anti-inflammatory efficacy and its quality evaluation.
Animals ; Anti-Inflammatory Agents ; isolation & purification ; pharmacology ; Ilex ; chemistry ; Mice ; Nitric Oxide ; metabolism ; Phenols ; chemistry ; Phytochemicals ; isolation & purification ; pharmacology ; Plant Stems ; chemistry ; RAW 264.7 Cells

Ilex asprella is one of representative medicinal plants in South of the Five Ridges of China. The roots and rhizomes of I. asprella have the effects of clearing heat and detoxifying, stimulating salvia, and reducing thirst, which has been used to treat wind-heat cold, acute and chronic pharyngitis, and sore throat. Contemporary studies showed that I. asprella contains the major triterpenoids and glycosides, phenolic acids, and minor steroids. The extracts and compounds show activities of anti-inflammatory, antiviral, anti-tumor, and regulating lipid metabolism.The present paper summarizes a phytochemical and pharmacological advance on this species to provide reference for clarification of its pharmacologically active ingredients, quality evaluation, and further explorations.

Phytochemical investigation on the stems of Ilex asprella by using various chromatographic techniques led to the isolation of 13 compounds. By spectroscopic analyses and comparisons the spectral data with those in literatures, these compounds were identified as salicifoneoliganol(1), rel-(7R,8S)-3,3',5-trimethoxy-4',7-epoxy-8,5'-neolignan-4,9,9'-triol 9-β-D-glucopyranoside(2),(+)-cycloolivil(3),(+)-syringaresinol-4'-O-β-D-monoglucoside(4), liriodendrin(5), caffeic acid (6), 3,4-dihydroxy-5-methoxybenzaldehyde(7), benzene-1,2,4-triol(8), 3,4,5-trimethoxyphenyl-1-O-β-D-apiofuranosyl(1″→6')-glucopyranoside(9), aeculetin(10), cryptochlorogenic acid ethyl ester(11), chlorogenic acid ethyl ester(12), and rel-5-(3S,8S-dihydroxy-1R,5S-dimethyl-7-oxa-6-oxobicyclo [3,2,1]oct-8-yl)-3-methyl-2Z,4E-pentadienoic acid(13). Among them, compounds 7, 8, 11, and 13 were isolated from genus Ilex for the first time, and 1-3, 9, 10, and 12 were isolated from this speciesfor the first time. The anti-inflammatory assay results of these compounds showed that compounds 1 and 9 showed moderate inhibitory effect against NO production in RAW 267. 4 cells with IC₅₀ values of 35.7 and 50.6 μmol•L⁻¹, in vitro respectively, whereas compound 10 showed weak inhibition(IC₅₀ value 98.7 μmol•L⁻¹).