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1.
Acta Pharmaceutica Sinica ; (12): 751-763, 2024.
Article in Chinese | WPRIM | ID: wpr-1016606

ABSTRACT

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.

2.
Chinese Journal of Pathology ; (12): 58-63, 2024.
Article in Chinese | WPRIM | ID: wpr-1012425

ABSTRACT

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.


Subject(s)
Male , Female , Humans , Child , Adolescent , Young Adult , Adult , Retrospective Studies , Transcription Factors/genetics , Rhabdomyosarcoma , RNA-Binding Protein EWS/genetics , China , Biomarkers, Tumor/genetics , DNA-Binding Proteins/genetics , RNA-Binding Protein FUS/genetics
3.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 1056-1060, 2023.
Article in Chinese | WPRIM | ID: wpr-1014713

ABSTRACT

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.

4.
Chinese Journal of Pathology ; (12): 827-831, 2023.
Article in Chinese | WPRIM | ID: wpr-1012315

ABSTRACT

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.


Subject(s)
Male , Female , Humans , Adult , Middle Aged , Aged , Desmin/analysis , China , Lipoma/pathology , Fibroblasts/pathology , S100 Proteins/analysis , Diagnosis, Differential , Fibrocartilage/pathology , Biomarkers, Tumor/analysis
5.
China Journal of Chinese Materia Medica ; (24): 2904-2918, 2023.
Article in Chinese | WPRIM | ID: wpr-981444

ABSTRACT

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.


Subject(s)
Asteraceae , Chrysanthemum , Alkynes , Antimalarials , Antioxidants/pharmacology
6.
Acta Pharmaceutica Sinica ; (12): 1383-1394, 2023.
Article in Chinese | WPRIM | ID: wpr-978679

ABSTRACT

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.

7.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 983-986, 2023.
Article in Chinese | WPRIM | ID: wpr-991851

ABSTRACT

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.

8.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 847-853, 2023.
Article in Chinese | WPRIM | ID: wpr-988733

ABSTRACT

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.

9.
Chinese journal of integrative medicine ; (12): 891-895, 2021.
Article in English | WPRIM | ID: wpr-922123

ABSTRACT

BACKGROUND@#The side effects of chemotherapy-induced nausea and vomiting (CINV) and myelosuppression reduce the cancer patients' adherence to chemotherapy. Many Chinese patients choose Chinese medicine (CM) during chemotherapy to reduce side effects; however, the evidence is lacking. The efficacy of a CM herbal treatment protocol, Jianpi Bushen Sequential Formula (, JBSF) will be evaluated on chemotherapy completion rate among patients with colon cancer.@*METHODS@#A multi-center double-blind randomized controlled trial (RCT) will be conducted on 400 patients with colon cancer who will receive 8 cycles of adjuvant chemotherapy with oxaliplatin and capecitabine (CAPEOX). Patients will be randomized 1:1 to receive the JBSF or placebo formula. The primary outcome is the overall chemotherapy completion rate. The secondary outcomes include individual chemotherapy completion rate, 4-cycle completion rate of chemotherapy, time to treatment failure, relative dose intensity and treatment toxicity. Follow-up visits will be scheduled before every and after last chemotherapy.@*DISCUSSION@#This study will provide evidence on whether JBSF can improve the chemotherapy completion rate and reduce side effects among patients with colon cancer. (Trial registration: ClinicalTrials.gov, No. NCT03716518).


Subject(s)
Humans , Chemotherapy, Adjuvant , Colonic Neoplasms/drug therapy , Double-Blind Method , Multicenter Studies as Topic , Nausea , Quality of Life , Randomized Controlled Trials as Topic , Treatment Outcome , Vomiting
10.
Chinese Journal of Medical Genetics ; (6): 56-58, 2021.
Article in Chinese | WPRIM | ID: wpr-879522

ABSTRACT

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.


Subject(s)
Female , Humans , Male , Pregnancy , China , Microphthalmos/genetics , Mutation , Pedigree , Prenatal Diagnosis , Exome Sequencing
11.
China Journal of Chinese Materia Medica ; (24): 4654-4665, 2021.
Article in Chinese | WPRIM | ID: wpr-888169

ABSTRACT

Compounds derived from natural products present satisfactory efficacy in disease prevention and treatment. The use of chemical substances in plants to promote healthhas increasingly attracted people's attention. Rutin, a typical flavonoid, is mainly found in various vegetables, fruits and Chinese herbal medicines. As a natural antioxidant, it features many pharmacological activities, such as anti-inflammation, anti-virus, anti-tumor, and prevention and treatment of cardiovascular and cerebrovascular diseases. However, the low bioavailability and poor water solubility limit its clinical application. In view of this, its structure is optimized and modified to afford rutin derivatives with good solubility, high bioavailability, stable metabolism and small toxic side effects. So far, a large number of rutin ethers, esters, and complexes have been synthesized and undergone activity testing. This paper reviews the structural modification of rutin in recent years, and the obtained derivatives have excellent properties and significant biological activity.


Subject(s)
Humans , Anti-Inflammatory Agents , Antioxidants , Biological Availability , Rutin , Solubility
12.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 797-800, 2021.
Article in Chinese | WPRIM | ID: wpr-883799

ABSTRACT

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.

13.
Chinese Journal of Thoracic and Cardiovascular Surgery ; (12): 669-672, 2021.
Article in Chinese | WPRIM | ID: wpr-912344

ABSTRACT

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.

14.
Journal of Integrative Medicine ; (12): 492-498, 2020.
Article in English | WPRIM | ID: wpr-880976

ABSTRACT

BACKGROUND@#Hemorrhoids are one of the most common conditions that lead to surgery, and until now surgical hemorrhoidectomy has been the major effective treatment. Post-operative pain from hemorrhoidectomy has been experienced by thousands of patients and remains a major inconvenience of the operation.@*OBJECTIVE@#This study evaluates the clinical efficacy of the pestle needle therapy, an acupoint stimulation method, for relief of post-hemorrhoidectomy pain.@*DESIGN, SETTING, PARTICIPANTS AND INTERVENTIONS@#This was a single-center, patient-assessor-blinded and randomized controlled trial with 154 patients receiving Milligan hemorrhoidectomy surgery. Eligible patients were randomly assigned to either a treatment group or a control group at a ratio of 1:1. The treatment group received the pestle needle therapy, with manual stimulation at Yaoshu (DU2), Mingmen (DU4), Changqiang (DU1), Chengshan (BL57), Erbai (EX-UE2) and the perianal points (1, 3, 5, 7, 9, and 11o'clock around the lesion); while the control group received a sham treatment with very light pressure. Three sessions of treatment were performed at 30 min, 4 h and 12 h after the surgery, and each lasted for 15 min.@*MAIN OUTCOME MEASURES@#The primary outcome was post-operative pain measured with the visual analogue scale (VAS) at 12 h after surgery. The secondary outcomes included the VAS scores measured at 0.5, 2, 4, 6, 8, 24 and 48 h after surgery, the analgesic dose, the time and the VAS score of the patients' first defecation after surgery, as well as the Hamilton Rating Scale for Anxiety (HAMA) evaluated before discharge.@*RESULTS@#The mean pain score of the treatment group was significantly lower than that of the control group (3.10 ± 1.27 vs 4.82 ± 1.29; P < 0.001) at 12 h after surgery. Compared with the control group, patients in the treatment group needed a smaller dose of analgesic within the first 24 hours after surgery (P = 0.002); and their HAMA scores before discharge were lower (4.07 ± 2.40 vs 5.10 ± 2.45, P = 0.009). Compared to the treatment group, patients in the control group had a greater time to the first defecation after surgery ([52.34 ± 15.72] h vs [27.08 ± 13.68] h; P < 0.001), but there was no difference in their VAS scores at the first defecation (P = 0.092).@*CONCLUSION@#The pestle needle therapy was effective for relieving pain, reducing anxiety and improving bowel function after hemorrhoidectomy, and it is worthy of clinical application.

15.
Chinese Journal of Thoracic and Cardiovascular Surgery ; (12): 326-329, 2020.
Article in Chinese | WPRIM | ID: wpr-871630

ABSTRACT

Objective:To analyze the results of surgical treatment in patients with obstructed total anomalous pulmonary venous connection.Methods:Inclusion criteria: Patients with obstructed total anomalous pulmonary venous connection, who underwent surgical treatment in our hospital between December 2012 to January 2018. Exclusion criteria: (1)With complicated malformations, such as single ventricle and visceral inversion; (2)The maximum flow velocity of pulmonary vein was less than 1.2 m/s; (3)Had not underwent surgery. 57 patients[33 males and 24 females, age: (3.2±1.7) months, weight: (5.0±0.9) kg] were enrolled. There were four anatomical subtypes: supracardiac type(n=30), cardiac type(n=16), infracardiac type(n=5), and mixed type(n=6). Patients were followed up after operation.Results:During the follow-up of(52±21) months, 8 cases(14.0%, 8/57) died postoperatively. Postoperative pulmonary vein stenosis was present in 7 patients(12.3%, 7/57). The mortality of patients with postoperative pulmonary vein stenosis(57.1%, 4/7) was significantly higher than that of patients without postoperative pulmonary vein stenosis(8.0%, 4/50).Conclusion:The results of surgical treatment in patients with obstructed total anomalous pulmonary venous connection were encouraging, however, recurrent pulmonary venous stenosis still should be taken care.

16.
Chinese Journal of Medical Genetics ; (6): 471-474, 2020.
Article in Chinese | WPRIM | ID: wpr-826552

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with cleft lip and palate.@*METHODS@#Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA).@*RESULTS@#As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign.@*CONCLUSION@#Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.


Subject(s)
Female , Humans , Pregnancy , Chromosome Deletion , Chromosomes, Human, X , Genetics , Cleft Lip , Diagnosis , Genetics , Cleft Palate , Diagnosis , Genetics , DNA Copy Number Variations , Fetus , Histone Demethylases , Microarray Analysis , Methods , Prenatal Diagnosis , Transcription Factors
17.
Journal of Clinical Hepatology ; (12): 1050-1054, 2020.
Article in Chinese | WPRIM | ID: wpr-821995

ABSTRACT

ObjectiveTo investigate the expression and clinical value of coiled-coil domain-containing protein 34 (CCDC34) in hepatocellular carcinoma (HCC), and to predict the role of CCDC34 in the development and progression of HCC. MethodsThe datasets of HCC were downloaded from The Cancer Genome Atlas (TCGA) to obtain the expression profile and clinical information of the CCDC34 gene. The bioinformatics method was used to analyze the expression of CCDC34 in HCC, its correlation with clinicopathological parameters, and its influence on prognosis. The gene set enrichment analysis (GSEA) was used to predict the possible pathways regulated by the CCDC34 gene in HCC. The independent samples t-test and the paired t-test were used for comparison of continuous data between two groups; the Kaplan-Meier method and the log-rank test were used for survival analysis; the Cox proportional-hazards regression model analysis was used to investigate the influencing factors for prognosis. P<0.01 was the standard for judging significant enrichment in GSEA, and the false discovery rate was <0.05. ResultsIn TCGA database, CCDC34 was highly expressed in tumor tissue, and there was a significant difference in the expression of CCDC34 between patients with different TNM stages and tumor grades (t=2.118 and 3.622, P=0.035 and P<0.001). The patients with high expression of CCDC34 had a significantly shorter overall survival time than those with low expression (χ2=21.716, P<005). The multivariate Cox regression analysis showed that the expression of CCDC34 (HR=2.287,95%CI:1.312-3.987)and TNM stage(HR=1.943,95%CI:1.101-3.429) were independent risk factors for the overall survival time of patients with HCC (all P<0.05). The enrichment of 8 pathway gene sets, including base excision repair and spliceosome, was observed in the samples with high expression of CCDC34 (P<0.01, FDR <0.05). ConclusionCCDC34 may play a vital role in the development and progression of HCC and thus become a new prognostic indicator and a potential therapeutic target.

18.
Chinese Journal of Pancreatology ; (6): 184-189, 2020.
Article in Chinese | WPRIM | ID: wpr-865690

ABSTRACT

Objective:To study the expression and clinical value of centromere protein A (CENP-A) in pancreatic cancer (PC), and to predict the role of CENP-A in the development and progression of PC.Methods:The expression profile of CENP-A mRNA and clinicopathological data were obtained from PC data set downloaded from the gene expression omnibus (GEO) and the cancer genome atlas (TCGA), which included a microarray data set of 45 patients with PC (GSE28735) and a microarray data set of 177 patients with PC. The correlation between CENP-A gene expression in PC tissue and the clinicopathological indices as well as the effects on the prognosis of PC was analyzed by the bioinformatics method. The potential pathway regulated by CENP-A in PC was predicted by gene set enrichment analysis (GSEA). Meanwhile, the proteins related to CENP-A were screened out by combining with the protein-protein interaction (PPI) network of CENP-A in STRING database, and the correlation between CENP-A and expression of its related proteins was analyzed.Results:The expression level of CENP-A mRNA in PC tissue was greatly higher than that in adjacent tissue, and the difference was statistically significant (4.492±0.361 vs 3.431±0.405, P=0.001). The expression level of CENP-A in PC tissue was significantly correlated with TNM stage and tumor grade ( P<0.05). The overall survival of patients with high CENP-A expression was significantly lower than that of patients with low CENP-A expression ( P<0.05). Cell cycle and DNA replication pathways were enriched in PC tissue with high CENP-A expression ( P<0.01, false discovery rate<0.05). CENP-A in PC tissue was strongly correlated with CDK1 ( r=0.861, P<0.001) and BUB1 ( r=0.825, P<0.001) in PC tissue through the PPI network analysis. Conclusions:CENP-A gene overexpression in PC tissue was related to its malignant biological behaviour, and its mechanism may be achieved by the synergistic action with CDK1 and BUB1.

19.
Journal of Clinical Hepatology ; (12): 2231-2235, 2019.
Article in Chinese | WPRIM | ID: wpr-778732

ABSTRACT

ObjectiveTo investigate the expression and clinical value of ZNF580 mRNA in hepatocellular carcinoma (HCC), as well as the role of ZNF580 mRNA in the development and progression of HCC. MethodsHCC dataset was downloaded from The Cancer Genome Atlas (TCGA) to obtain the gene expression profile and clinical information of ZNF580 mRNA. The bioinformatics method was used to analyze the association between the expression of ZNF580 mRNA in HCC and clinicopathological indices and the influence of ZNF580 mRNA on prognosis. A gene enrichment analysis was used to predict the possible pathways of ZNF580 mRNA involved in the regulation of HCC. The t-test was used for comparison of continuous data between two groups, the chi-square test was used for comparison of categorical data between two groups. The Cox proportional-hazards regression model was used to investigate the risk factors for prognosis, and hazard ratio (HR) and 95% confidence interval (CI) were calculated. ResultsIn the TCGA dataset, the expression of ZNF580 mRNA in tumor tissue was significantly higher than that in adjacent tissue (8.440±0.705 vs 7.736±0.387, P<0.05), and there was a significant difference in the expression of ZNF580 mRNA between the patients with different tumor grades (t=-2.068, P<0.05). The patients with high expression of ZNF580 mRNA had a significantly shorter overall survival time than those with low expression (χ2=5.456, P<0.05). The multivariate Cox regression analysis showed that ZNF580 mRNA expression [HR(95%CI)=1.600(1.079~2.372)] and TNM stage [HR(95%CI)=2.006(1.394~2.888)] were independent risk factors for overall survival time of HCC patients (both P<0.05). The samples with high expression of ZNF580 mRNA showed enrichment of genes in the pathways of ribosome and Huntington’s disease (all P<0.05, FDR=0.198,0.243). ConclusionZNF580 mRNA may act as an oncogene in HCC and is expected to become an indicator for prognostic evaluation of HCC and a potential therapeutic target for HCC.

20.
Chinese Acupuncture & Moxibustion ; (12): 1027-1033, 2019.
Article in Chinese | WPRIM | ID: wpr-776219

ABSTRACT

OBJECTIVE@#To screen the optimal acupuncture regimen for cricopharyngeal achalasia (CPA) after brain stem infarction and compare the therapeutic effect between the combined therapy of catheter balloon dilation and acupuncture and the simple application of catheter balloon dilation.@*METHODS@#The patients suffering from neuropathic dysphagia in CPA after brain stem infarction were selected as the subjects. After confirmed in the diagnosis with video fluoroscopic swallowing study (VFSS), they were randomized into 6 groups, 15 cases in each one, named group A (routine treatment), group B (catheter balloon dilation), group C1 (treated with acupuncture in local area), group C2 (treated with acupuncture based on differentiation), group C3 (treated with acupuncture at the local area and the acupoints based on differentiation) and group D (catheter balloon dilation combined with the optimal acupuncture). Two phases were included in the study. In the first phase of study, the therapeutic effect was compared among the three acupuncture groups, named C1, C2 and C3 group, so as to screen the optimal acupuncture regimen. In the group C1, the main acupoints included Fengchi (GB 20), Wangu (GB 12), Yifeng (TE 17) and three-tongue points (Extra). In the group C2, the main acupoints were Neiguan (PC 6), Tongli (HT 5), Zusanli (ST 36) and Sanyinjiao (SP 6) as well as the supplementary acupoints in accordance with the syndrome differentiation. In the group C1 and group C2, after , the electroacupuncture was used, with continuous dense wave, 5 to 8 Hz in frequency. The needles were retained for 30 min. Acupuncture was given once a day, 5 treatments a week. Before treatment, in 6 weeks of treatment or after removal of gastric tube, the rehabilitation was evaluated. In the group C3, the acupoints, manipulation and treating course were same as the group C1 and group C2. In the 2nd phase of study, theresults of rehabilitation treatment were compared among the group A, group B and group D. The treatment was given once a day, 5 times a week. Before treatment, after gastric tube removal or in 6 weeks of treatment, the evaluation was conducted. The feedingswallowing function grade and VFSS were adopted in the evaluation among the above 6 groups.@*RESULTS@#① In the VFSS comparison at 1st phase of study after treatment, the food transporting ability at oral dysphagia, the results in the group C3 and group C1 were better obviously than the group C2 (both 0.05). The severity of dysphagia in the group C3 was milder than the group C2 and group A (both <0.05). ② In the VFSS comparison at the 2nd phase of study, for the food transporting ability, the results in the group D and the group B were obviously better than the group A (both <0.05). Regarding the function at the pharyngeal dysphagia and aspiration, the results in the group D were better than the group B and group A, those in the group B were better than the group A (all <0.05). The difference in the extubation rate among the group A, group B and group D after treatment was significant statistically (<0.01), of which, the extubation rate in the group D was the highest and the rate in the group A was the lowest. The dysphagia degree in the group D was milder than the group B and group A and that in the group B was milder than the group A (all <0.05).@*CONCLUSION@#In the study of the different acupuncture methods, the acupuncture at the local acupoints and the acupoints selected based on differentiation is the optimal acupuncture regimen for cricopharyngeal achalasia after brain stem infarction. The catheter balloon dilation combined with acupuncture present the synergistc effect on cricopharyngeal achalasia after brain stem infarction, obviously relieve dysphagia and reduce aspiration.


Subject(s)
Humans , Acupuncture Points , Acupuncture Therapy , Methods , Brain Stem Infarctions , Catheterization , Dilatation , Esophageal Achalasia , Therapeutics , Treatment Outcome
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