Gene set correlation enrichment analysis for interpreting and annotating gene expression profiles.

Pathway analysis, including nontopology-based (non-TB) and topology-based (TB) methods, is widely used to interpret the biological phenomena underlying differences in expression data between two phenotypes. By considering dependencies and interactions between genes, TB methods usually perform better than non-TB methods in identifying pathways that include closely relevant or directly causative genes for a given phenotype. However, most TB methods may be limited by incomplete pathway data used as the reference network or by difficulties in selecting appropriate reference networks for different research topics. Here, we propose a gene set correlation enrichment analysis method, Gscore, based on an expression dataset-derived coexpression network to examine whether a differentially expressed gene (DEG) list (or each of its DEGs) is associated with a known gene set. Gscore is better able to identify target pathways in 89 human disease expression datasets than eight other state-of-the-art methods and offers insight into how disease-wide and pathway-wide associations reflect clinical outcomes. When applied to RNA-seq data from COVID-19-related cells and patient samples, Gscore provided a means for studying how DEGs are implicated in COVID-19-related pathways. In summary, Gscore offers a powerful analytical approach for annotating individual DEGs, DEG lists, and genome-wide expression profiles based on existing biological knowledge.

Identification, expression and protein interaction analysis of Aux/IAA and ARF gene family in Senna tora L / 药学学报

The early response of plant auxin gene family Aux/IAA (auxin/indole-3-acetic acid) and its interaction with auxin response factor (ARF) are important pattern to regulate plant growth and development. This work identified 28 StoIAA and 24 StoARF members based on the whole genome data of the medicinal plant Senna tora L., which were classified into 10 and 8 subfamilies, respectively. Phylogenetic tree and collinearity analysis showed that S. tora has close evolutionary relationship with the IAA and ARF homologous genes of Glycine max, Medicago truncatula, and the segment duplication events dominate the expansion of StoIAA and StoARF. Gene structure analysis showed that the vast majority of StoIAA and StoARF contain characteristic conserved domain. Transcriptome data showed that StoIAAs and StoARFs were expressed in leaves, roots and seeds, some members had tissue specific expression. The StoIAA and StoARF promoter region most contain functional elements related to stress response, growth and development, hormone induction and secondary metabolism. In addition, gene expression analysis showed that many StoIAAs and StoARFs can quickly respond to drought and salt stress and exhibited same expression patterns under both stress condition. The yeast two-hybrid experiment confirmed that StoARF8 and StoARF10 exhibit varying degrees of interaction with multiple StoIAA proteins, respectively. The above results provide a basis for further biological functional analysis of the Aux/IAA and ARF gene family of S. tora.

Clinicopathological study of epithelioid and spindle cell rhabdomysarcoma with EWSR1/FUS-TFCP2 fusion / 中华病理学杂志

Objective: To investigate the clinicopathological and genetic features of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion. Methods: The clinical, morphological and immunohistochemical features of 14 cases of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion diagnosed from January 2019 to December 2022 in the Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed. The cases were all subject to FISH or next generation sequencing for analysis of molecular genetic features. The literature was reviewed. Results: There were 5 males and 9 females, with the age at presentation ranging from 6 to 36 years (mean, 22 years). Tumors occurred in the head and neck (9 cases), pelvic region (2 cases), bladder (one case), right humerus (one case), and the abdominal wall, humerus and pubic at the same time (one case). Presenting symptoms varied by location but often included pain or discomfort. Most of the patients showed aggressive radiographic features with soft tissue extension. The tumors had a median size of 6.6 cm (range, 2-23 cm). The tumors were poorly defined and irregularly shaped. Microscopic examination showed diffuse proliferation of spindle or epithelioid cells. While morphologically high-grade tumors displayed obvious cytological atypia, a high mitotic count and tumor necrosis, low-grade tumors grew in sheets and fascicles composed of spindle, epithelioid cells with moderate or abundant amounts of eosinophilic cytoplasm, without pronounced cytological atypia. The tumor cells expressed Desmin, MyoD1, and Myogenin, as well as ALK, EMA, and CKpan. EWSR1/FUS-TFCP2 gene fusion was detected in 14 cases with next generation sequencing and confirmed by FISH. Six cases had EWSR1-TFCP2 fusions and 8 cases showed FUS-TFCP2 fusions. Follow-up information was available in 13 patients, ranged from 5 to 37 months. At the end of follow-up period, 7 patients died of the disease. Six patients were alive:two cases had local recurrences and metastases, two cases of recurrences, one case of metastasis and one case without recurrences and metastasis. Conclusions: Epithelioid and spindle cell rhabdomysarcomas with EWSR1-TFCP2 or FUS-TFCP2 fusion show a very aggressive clinical course, and more commonly occur in the head and neck. Their genetic hallmark is the presence of EWSR1/FUS-TFCP2 fusions. Familiarity with its clinicopathological characteristics is helpful in avoiding misdiagnoses.

Rhizoma Atractylodis Macrocephalae-Assessing the influence of herbal processing methods and improved effects on functional dyspepsia.

Background: The unique pharmaceutical methods for the processing of botanical drugs according to the theory of traditional Chinese medicine (TCM) affect clinical syndrome differentiation and treatment. The objective of this study was to comprehensively elucidate the principles and mechanisms of an herbal processing method by investigating the alterations in the metabolites of Rhizoma Atractylodis Macrocephalae (AMR) processed by Aurantii Fructus Immaturus (AFI) decoction and to determine how these changes enhance the efficacy of aqueous extracts in treating functional dyspepsia (FD). Methods: A qualitative analysis of AMR before and after processing was conducted using UPLC-Q-TOF-MS/MS, and HPLC was employed for quantitative analysis. A predictive analysis was then conducted using a network analysis strategy to establish a botanical drug-metabolite-target-disease (BMTD) network and a protein-protein interaction (PPI) network, and the predictions were validated using an FD rat model. Results: A total of 127 metabolites were identified in the processed AMR (PAMR), and substantial changes were observed in 8 metabolites of PAMR after processing, as revealed by the quantitative analysis. The enhanced aqueous extracts of processed AMR (PAMR) demonstrate improved efficacy in treating FD, which indicates that this processing method enhances the anti-inflammatory properties and promotes gastric motility by modulating DRD2, SCF, and c-kit. However, this enhancement comes at the cost of attenuating the regulation of motilin (MTL), gastrin (GAS), acetylcholine (Ach), and acetylcholinesterase (AchE). Conclusion: Through this series of investigations, we aimed to unravel the factors influencing the efficacy of this herbal formulation in improving FD in clinical settings.

[Research progress on chemical constituents and pharmacological effects of Ajania plants].

Ajania belonging to the subtribe Artemisiinae of Anthemideae(Asteraceae) is a genus of semi-shrubs closely related to Chrysanthemum. There are 24 species of Ajania in northwestern China, most of which are folk herbal medicines with strong stress tolerance. Modern medical studies have demonstrated that the chemical constituents of Ajania mainly include terpenoids, flavonoids, phenylpropanoids, alkynes, and essential oils. These compounds endow the plants with antimicrobial, anti-inflammatory, antitumor, antimalarial, antioxidant, and insecticide effects. In this study, we reviewed the research progress in the chemical constituents and pharmacological activities of Ajania, aiming to provide reference for the further research and development of Ajania.

Clinical study on dapagliflozin combined with metformin for the treatment of type 2 diabetes mellitus / 中国基层医药

Objective:To investigate the clinical effect of dapagliflozin combined with metformin on type 2 diabetes mellitus (T2DM).Methods:A total of 100 patients with T2DM who received treatment in The Second People's Hospital of Hefei from June 2019 to May 2021 were included in this study. They were randomly divided into a control group ( n = 50) and an experimental group ( n = 50). The control group was treated with metformin, and the experimental group was treated with dagglitazin combined with metformin. All patients were treated for 3 months. Blood glucose index, blood lipid level, and the incidence of adverse reactions were compared between the two groups. Results:After treatment, fasting blood glucose, 2-hour post-prandial blood glucose, and glycosylated hemoglobin in the experimental group were (5.56 ± 0.37) mmol/L, (8.32 ± 0.23) mmol/L, and (6.17 ± 0.26)% respectively, which were significantly lower than (6.96 ± 0.48) mmol/L, (9.58 ± 0.39) mmol/L, and (7.27 ± 0.26)% respectively in the control group ( t = 3.59, 6.92, 5.03, all P < 0.05). The total cholesterol and triglyceride in the experimental group were (3.58 ± 0.53) mmol/L and (1.25±0.26) mmol/L, respectively, which were significantly lower than (4.94 ± 0.58) mmol/L and (1.93 ± 0.18) mmol/L in the control group ( t = 3.16, 4.25, both P < 0.05). There was no significant difference in the incidence of adverse reactions between the two groups ( P > 0.05). Conclusion:Dapagliflozin combined with metformin can effectively control blood glucose and blood lipid in T2DM patients without increasing adverse reactions.

Practical Value of Environment-friendly Sample Release Agent Combined with Ultrasound in the Preparation of Pathological Tissue Sections / 中山大学学报(医学科学版)

ObjectiveTo explore the practical value of environment-friendly sample release agent combined with ultrasound in the preparation of pathological tissue sections. MethodsFrom February 2013 to December 2022， 2 518 pathological specimens submitted by Foshan Municipal Hospital of Traditional Chinese Medicine were selected as the study objects. Two samples of the same specimen were randomly divided into two groups： the environment-friendly fast group， in which the pathological tissue sections were made by using the environment-friendly sample release agent combined with ultrasound； and the traditional group， in which formaldehyde， ethanol and xylene were used to make slices in the conventional way. The differences of hematoxylin （HE） staining effect， immunohistochemistry （IHC） staining effect and MDM2 gene detection result of atypical lipomatous tumor/highly differentiated liposarcoma （ALT/WDL） tissue sections between the two groups were compared. Results① The wax of the two groups' pathological tissues was dehydrated well and the tissue hardness was moderate. After HE staining， the sections of the two groups were intact， without cracks and tremor marks， and the contrast between nucleus and cytoplasm was appropriate， with good transparency， uniform staining， and no tissue loss. The excellent rate and score of HE staining in the environmental fast group were higher than those in the traditional group， but the difference was not statistically significant （χ2 = 3.125，P1 = 0.070；t = 0.965，P2 = 0.334）. ②After IHC staining of the two groups of sections， the positive location of the cells was accurate， the staining was specific and uniform， the staining intensity was moderate， the staining sensitivity was good， and there was no tissue loss. The excellent rate of IHC staining and the positive rate of IHC staining in the environmental fast group were lower than those in the traditional group， but the difference was not statistically significant （χ12 = 2.769，P1 = 0.092；χ22 = 0.800，P2 = 0.375）. ③The background and outline of the two groups of WDL tissue sections were clear， the staining was uniform， the cells were clear and visible， the nuclear boundary was clear， the hybridization signal was clear and bright under the background fluorescence， and there was no miscellaneous signal. The two groups of sections were hybridized successfully， and MDM2 showed positive amplification. The number of cells successfully hybridized in the environment-friendly fast group was lower than that in the traditional group， but the difference was not statistically significant （t = 1.414，P = 0.230）. ConclusionsThe tissue treatment method of using environment-friendly sample release agent combined with ultrasound can ensure the detection effect of HE staining， IHC staining and MDM2 gene detection of pathological tissue sections， and is more efficient and environment-friendly， suitable for promotion and use in hospitals at all levels.

Effect and safety of flurbiprofen axetil in the analgesic treatment of patients with craniocerebral injury / 中国临床药理学与治疗学

AIM:To observe the efficacy and safety of flurbiprofen axidate in postoperative analgesia in patients with craniocerebral injury. METHODS: A total of 60 patients with acute craniocerebral injury admitted to the Department of Neurosurgery in our hospital from May 2021 to May 2023 were selected. They were randomly divided into flurbiprofen axetil group (flurbiprofen + fentanyl analgesia) and fentanyl group (fentanyl analgesia), and the CPOT score of analgesia target was ≤3 points. The onset time of analgesia, the dosage of fentanyl within 48 h, and the occurrence times of nausea and vomiting, upper gastrointestinal hemorrhage, bradycardia and hypotension during analgesia treatment were observed in the two groups. Serum CRP, IL-6, TNF-α, NSE and S100β protein levels were detected before and 24 h and 48 h after the operation. RESULTS: There were no significant differences in gender, age, BMI, admission GCS score between the two groups. When analgesia reached the target value of CPOT score ≤3 points, the time required for flurbiprofen ester group was shorter than that of fentanyl group (P0.05). CRP, IL-6, TNF - α, NSE and S100β in flurbiprofen axetil group were significantly lower than those in fentanyl group at 24 h and 48 h after operation (P<0.05). CONCLUSION: Flurbiprofen exate can reduce the amount of analgesic fentanyl in patients with craniocerebral injury, and has anti-inflammatory effect to reduce brain injury, and can be effectively and safely used in the analgesic management of patients with craniocerebral injury.

Fibrocartilaginous lipoma: a clinicopathological analysis of six cases / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.

Genome-wide identification of GSK gene family in Senna tora L. and expression analyses / 药学学报

Glycogen synthase kinase 3/SHAGGY-like kinase (GSK3) proteins play important roles in regulating plant growth, development, and stress response. In order to reveal the characteristics of GSK family members in the medicinal plant Senna tora L., in this study, we conducted the identification and expression analyses of GSKs in S. tora based on its whole genome data, combined with bioinformatics and gene expression research methods. The results showed that a total of nine S. tora GSK genes were identified, all of which contained the GSK characteristic kinase domains. All members were distributed on six chromosomes, the encoding amino acid length ranged from 465 to 943 aa, the protein molecular weight was from 33.57 to 88.83 kDa, and the average isoelectric point was 8.2. The StoSKs were divided into four evolutionary branches, and the StoSKs in the same evolutionary branch shared the same exon/intron structure and conserved motifs. The expansion of the StoSKs gene family was mainly due to segment duplication events, and there were 17, 11, 8 and 7 pairs of collinear genes with Glycine max, Medicago truncatula, Arabidopsis thaliana and Oryza sativa, respectively. The promoter regions of StoSKs mostly contained responses elements related to stress stimulation, growth and development, and hormone induction. Transcriptome data analysis showed that StoSKs were expressed in different tissues, with the highest expression level in roots. Quantitative real-time PCR (qRT-PCR) analysis indicated that StoSKs in different evolutionary branches displayed a synergistic expression pattern response to light, and most of StoSKs could rapidly respond to NaCl stress with significantly up-regulated expression. All the results provide a basis for further analysis of the biological functions of the GSKs gene family in S. tora.

Research progress on chemical constituents and pharmacological effects of Ajania plants / 中国中药杂志

Ajania belonging to the subtribe Artemisiinae of Anthemideae(Asteraceae) is a genus of semi-shrubs closely related to Chrysanthemum. There are 24 species of Ajania in northwestern China, most of which are folk herbal medicines with strong stress tolerance. Modern medical studies have demonstrated that the chemical constituents of Ajania mainly include terpenoids, flavonoids, phenylpropanoids, alkynes, and essential oils. These compounds endow the plants with antimicrobial, anti-inflammatory, antitumor, antimalarial, antioxidant, and insecticide effects. In this study, we reviewed the research progress in the chemical constituents and pharmacological activities of Ajania, aiming to provide reference for the further research and development of Ajania.

Electrochemiluminescence enhanced by isolating ACQphores in pyrene-based porous organic polymer: A novel ECL emitter for the construction of biosensing platform.

In this work, a pyrene-based porous organic polymer (Py-POP) with strong electrochemiluminescence (ECL) emission was synthesized and used to fabricate an ECL sensor for the extra-sensitive detection of microRNA-155. The ECL intensity of the Py-POP prepared by tetra(p-aminophenyl)methane (TAPM) and 1,3,6,8-tetrakis(4-formylphenyl)pyrene (TFPPy) was about 3.1 times that of TFPPy aggregates, which was primarily ascribed to the elimination of the effect of aggregation-caused quenching (ACQ) by increasing the distance between ACQ luminophores (pyrene cores) in Py-POP. Meanwhile, the strong covalent connections between 1,3,6,8-tetraphenylpyrene (TPPy) and tetraphenylmethane (TPM) units in the rigid framework of Py-POP could partly block the intramolecular motion of TPPy and TPM, which reduced the non-radiative decay and thus further improved the ECL emission. Furthermore, the hydrophobic porous structure of Py-POP was beneficial to the enrichment of lipophilic tripropylamine (TPrA) coreactants in pores of Py-POP, which greatly shortened the electron migration distance between TPrA coreactants and pyrene luminophores on the pore walls of Py-POP, thereby also enhancing the ECL intensity. By using the Py-POP as a new ECL tag and with the help of the strand displacement processes and target recycling, the fabricated ECL biosensor had a sensitive response for microRNA-155 from 1 fM to 1 nM and a detection limit of 0.326 fM. Overall, this work provided a new and feasible strategy to surmount the ACQ effect for enhancing ECL emission, which not only paved a new way to exploit high-performance ECL materials for fabricating extra-sensitive sensors but also broadened the application of POPs in bioanalysis and ECL fields.

Overcoming Aggregation-Induced Quenching by Metal-Organic Framework for Electrochemiluminescence (ECL) Enhancement: Zn-PTC as a New ECL Emitter for Ultrasensitive MicroRNAs Detection.

Polycyclic aromatic hydrocarbons (PAHs) as traditional electrochemiluminescence (ECL) luminophores have been widely applied in the analysis field. However, their ECL intensity and efficiency are still limited due to the aggregation-induced quenching (ACQ) effect of PAHs. Hence, to overcome this limitation, we put forward a new strategy to increase the ECL intensity and efficiency by eliminating the ACQ effect of PAHs through the coordinative immobilization of PAHs within metal-organic frameworks (MOFs). As anticipated, the proof-of-concept experiment indicated that the coordinative immobilization of perylene-3,4,9,10-tetracarboxylate (PTC) into a Zn-PTC MOF could distinctly increase the ECL intensity and efficiency compared with H4PTC aggregates and H4PTC monomers. The reason for the ECL enhancement of Zn-PTC was that the immobilization of PTC within the MOF effectively amplified the distance between perylene rings of PTC ligands and thus eliminated the ACQ effect. Furthermore, the PTC into Zn-PTC was stacked in an edge-to-edge mode to form J-aggregation, which was also conducive to ECL enhancement. On the basis of the excellent ECL performance, we utilized Zn-PTC as a new ECL emitter combined with exonuclease III-stimulated target cycling and DNAzyme-assisted cycling dual amplification strategies to construct an ECL sensor for microRNA-21 detection, which had a wide signal response (100 aM to 100 pM) with a detection limit of 29.5 aM. Overall, this work represents a new and convenient method to overcome the ACQ effect of PAHs and boost the ECL performance, which opens a new horizon for developing high-performance ECL materials, thus offering more opportunities for building highly sensitive ECL biosensors.

Ruthenium(II) Complex-Grafted Hollow Hierarchical Metal-Organic Frameworks with Superior Electrochemiluminescence Performance for Sensitive Assay of Thrombin.

Metal-organic frameworks (MOFs) with porous structures exhibit favorable promise in synthesizing high-performance electrochemiluminescence (ECL) materials, yet their micropores and narrow channels not only restrict the loading capacity of ECL luminophores but also constrain the diffusion of coreactants, ions, and electrons. Hence, we developed a new and simple hydrothermal etching strategy for the fabrication of a hollow hierarchical MOF (HH-UiO-66-NH2) with a hierarchical-pore shell, which was employed as a carrier to graft Ru(bpy)2(mcpbpy)2+ (bpy = 2,2'-bipyridine, mcpbpy = 4-(4'-methyl-[2,2'-bipyridin]-4-yl) butanoic acid) onto the coordinatively unsaturated Zr6 nodes of HH-UiO-66-NH2, creating the Ru-complex-grafted HH-UiO-66-NH2 (abbreviated as HH-Ru-UiO-66-NH2). Impressively, the HH-Ru-UiO-66-NH2 presented brilliant ECL emission. On the one hand, the HH-UiO-66-NH2 with a hierarchical-pore shell and hollow cavity was conducive to immobilize the Ru(bpy)2(mcpbpy)2+ of large steric hindrance into the interior of the MOF, markedly improving the load number of luminophores. On the other hand, the hierarchical-pore shell of HH-UiO-66-NH2 permitted fast diffusion of coreactants, ions, and electrons that facilitated the excitation of more grafted luminophores and greatly enhanced the utilization ratio of ECL luminophores. Inspired by the superior ECL performance of HH-Ru-UiO-66-NH2, an ECL sensing platform was constructed on the basis of HH-Ru-UiO-66-NH2 as an ECL beacon combining catalytic hairpin assembly as a signal amplification strategy, showing excellent selectivity and high sensitivity for thrombin determination. This proof-of-concept work proposed a simple and feasible hydrothermal etching strategy to construct hollow hierarchical MOFs that served as carrier materials to immobilize ECL luminophores, providing significant inspiration to develop highly efficient ECL materials and endowing hollow hierarchical MOFs with ECL sensing applications for the first time.

Risk factors for postoperative pulmonary venous obstruction after correction of total anomalous pulmonary venous connection / 中华胸心血管外科杂志

Objective:To analyze the risk factors for postoperative pulmonary venous obstruction after correction of total anomalous pulmonary venous connection(TAPVC).Methods:We retrospectively reviewed all patients undergoing operative repair of TAPVC in our institution from December 2013 to January 2018. Patients with functionally univentricular circulations or atrial isomerism were excluded. Patients were divided into two groups according to whether there was pulmonary vein obstruction. The clinical variables of the two groups were compared. Variables for the multivariable analysis were chosen if there was statistical significance on univariable analysis.Results:145 patients were included, 91(63%) males, aged 4(2, 8)months and weight 5.5(4.5, 7.5)kg. Mean follow-up interval was(51±23) months. Postoperative obstruction developed in 27 patients(18.6%). The differences of anatomic type[supracardiac 18(67%) vs.59(50%), cardiac 4(15%) vs. 50(42%), infracardiac 3(11%) vs. 1(1%), mixed 2(7%) vs. 8(7%), P=0.003], preoperative obstruction[yes 19(70%) vs. 37(31%), no 8(30%) vs. 81(69%), P<0.001], associated cardiac lesions[yes 13(48%) vs. 27(23%), no 14(52%) vs. 91(77%), P=0.008] and bypass time[109(89, 129)min vs. 88(70, 110)min, P=0.002] between two groups were statistical significant. A multivariable model showed preoperative obstruction( P<0.001) and bypass time( P=0.009) were associated with postoperative obstruction. Conclusion:The incidence of pulmonary vein obstruction after correction of TAPVC was still high. If there was preoperative obstruction, or the bypass time was too long during operation, the surveillance of pulmonary vein obstruction should be strengthened after operation.

Clinical application of glycyrrhizic acid and its effect on cytochrome P 450 / 中国基层医药

Glycyrrhizic acid, as the main active ingredient of Glycyrrhiza, has anti-inflammatory, antiviral, antitussive, expectorant, immunomodulatory and other pharmacological effects. In recent years, many new clinical uses of glycyrrhizic acid have been found, and glycyrrhizic acid has an effect on human and animal cytochrome P 450. This paper summarizes the clinical application of glycyrrhizic acid and its effect on cytochrome P 450, providing reference for clinical rational use of glycyrrhizic acid preparation.

Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia / 中华医学遗传学杂志

OBJECTIVE@#To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia.@*METHODS@#The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing of amnionic DNA.@*RESULTS@#A heterozygous nonsense mutation c.289C>T (p.R97*) was identified in the OTX2 gene among three patients from the pedigree by WES. The result was confirmed by Sanger sequencing. The proband's mother has carried the same mutation but did not have microphthalmia. The proband's father, aunt and the mother's fetus did not carry the mutation.@*CONCLUSION@#The c.289C>T (p.R97*) mutation probably underlies the microphthalmia in this pedigree. Above result has facilitated genetic counseling and prenatal diagnosis.