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1.
Chinese Journal of Pathology ; (12): 12-15, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1012417

RESUMO

The 5th edition of the World Health Organization classification of hematolymphoid tumors (WHO Blue Book) is soon to be published. Significant revisions have been made in the chapters on histiocytic/dendritic cell neoplasms and stroma-derived neoplasms of lymphoid tissues, leading to the reclassification and renaming of specific diseases. This article provides a concise interpretation and summary of these updates, highlighting the differences from the fourth edition. Pertinent changes from clinical pathological diagnosis to treatment and prognosis are explored, with an emphasis on recent advancements in molecular genetics. Newly introduced disease classifications are discussed, and the section on follicular dendritic cell sarcoma contributed by the author is detailed to assist readers in quickly understanding and assimilating the new classification standards.


Assuntos
Humanos , Tecido Linfoide/patologia , Neoplasias de Tecidos Moles/patologia , Sarcoma de Células Dendríticas Foliculares/patologia , Células Dendríticas/patologia , Organização Mundial da Saúde
2.
Chinese Journal of Anesthesiology ; (12): 588-590, 2023.
Artigo em Chinês | WPRIM | ID: wpr-994235

RESUMO

Objective:To evaluate the efficacy of goal-directed analgesia/sedation for improvement in the preoperative management of the patients with aortic dissection.Methods:One hundred and ten patients of either sex, aged≥18 yr, diagnosed with arterial dissection by aortic CTA in our hospital, were divided into 2 groups ( n=55 each) using a random number table method: conventional group and goal-directed analgesia/sedation group. Routine preoperative management was performed in both groups. Fentanyl 0.13 μg/min was intravenously infused, and the infusion rate of fentanyl was adjusted to maintain the numerical rating scale (NRS) score at 0-3 at rest in conventional group. Midazolam 0.02 mg·kg -1·h -1 and fentanyl 0.13 μg/min were intravenously infused, and the infusion rates of midazolam and fentanyl were adjusted to maintain Richmond agitation-sedation score at -2 to 0 and NRS score at rest 0-3 in goal-directed analgesia/sedation group. Nicardipine was intravenously injected and the administration rate was adjusted to maintain systolic blood pressure at 100-120 mmHg, and metoprolol was taken orally to maintain the heart rate 60-70 beats/min. The time to reach the target blood pressure and consumption of fentanyl and nicardipine within 24 h were recorded, and the occurrence of drug-related adverse reactions during analgesia and sedation and perioperative death were recorded. Results:Compared with conventional group, the time to reach the target blood pressure was significantly shortened, and the consumption of fentanyl and nicardipine within 24 h was decreased in goal-directed analgesia/sedation group ( P<0.05). No adverse reactions or perioperative death was observed in two groups. Conclusions:Goal-directed analgesia/sedation (Richmond Agitation-Sedation Scale score -2-0, NRS score at rest 0-3) is helpful in controlling blood pressure and heart rate, thus improving the quality of preoperative management of patients with aortic dissection.

3.
Chinese Journal of Medical Genetics ; (6): 263-268, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970916

RESUMO

OBJECTIVE@#To analyze the correlation between the mutational status of immunoglobulin heavy chain variable (IGHV) gene with the prognosis of patients with Waldenström macroglobulinemia (WM).@*METHODS@#Immunoglobulin heavy chain gene (IGH) clonotypic sequence analysis was carried out to assess the mutational status of IGHV in the blood and/or bone marrow samples from 44 WM patients. The usage characteristics of IGHV-IGHD-IGHJ gene was explored.@*RESULTS@#The most common IGHV subgroup was IGHV3, which was similar to the data from the Institute of Hematology of Chinese Academy of Medical Science. IGHV3-23 (20.45% vs. 15.44%) and IGHV3-74 (11.36% vs. 7.35%) were the main fragments used, which was followed by IGHV4 gene family (15.91% vs. 24.26%). However, no significant correlation was found between the IGHV4 usage and the prognosis of the patients. Should 98% be taken as the cut-off value for the IGHV mutation status, only 5 patients had no IGHV variant, and there was no correlation with the prognosis. Based on the X-tile analysis, 92.6% was re-selected as the cut-off value for the IGHV variant status in such patients. LDH was increased in 26 patients (59.1%) without IGHV variant (P < 0.05), whilst progression-free survival (P < 0.05) and overall survival (P < 0.05) were significantly shorter compared with those with IGHV variants.@*CONCLUSION@#The usage characteristics of IGHV-IGHD-IGHJ in our patients was similar to reported by the Institute of Hematology of Chinese Academy of Medical Science, albeit that no correlation was found between the IGHV4 usage and the prognosis of the patients. Furthermore, 98% may not be appropriate for distinguishing the IGHV variant status in WM patients.


Assuntos
Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Família Multigênica , Mutação , Macroglobulinemia de Waldenstrom/genética
4.
Chinese Journal of Biotechnology ; (12): 1998-2009, 2021.
Artigo em Chinês | WPRIM | ID: wpr-887777

RESUMO

Aromatic compounds make up a large part of fragrances and are traditionally produced by chemical synthesis and direct extraction from plants. Chemical synthesis depends on petroleum resources and has disadvantages such as causing environment pollutions and harsh reaction conditions. Due to the low content of aromatic compounds in plants and the low yield of direct extraction, plant extractions require large amounts of plant resources that occupy arable land. In recent years, with the development of metabolic engineering and synthetic biology, microbial synthesis of aromatic compounds from renewable resources has become a promising alternative approach to traditional methods. This review describes the research progress on the synthesis of aromatic fragrances by model microorganisms such as Escherichia coli or yeast, including the synthesis of vanillin through shikimic acid pathway and the synthesis of raspberry ketone through polyketide pathway. Moreover, this review highlights the elucidation of native biosynthesis pathways, the construction of synthetic pathways and metabolic regulation for the production of aromatic fragrances by microbial fermentation.


Assuntos
Vias Biossintéticas , Engenharia Metabólica , Odorantes , Ácido Chiquímico , Biologia Sintética
5.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 152-160, 2021.
Artigo em Chinês | WPRIM | ID: wpr-906498

RESUMO

Objective:To obtain ancient traditional Chinese medicine(TCM)literatures relating to tumor and visual analysis by an automatic framework tool, in order to systematically sort out the development of ancient Chinese medicine oncology. Method:Based on the database platform of ancient TCM books,names of tumor-related diseases in ancient TCM books were retrieved by Selenium WebDriver, an automation framework tool under Python 3.8. Lxml's etree library was used to parse the data. Statistics was made for "classification", "authors", "completion time" and "summary" of relevant ancient books automatically. After the data was checked and processed, Tableau 2019.2 software was used for data visualization analysis. And ancient Chinese medicine literatures relating to tumor were consulted at the database manually,with the dynasties as the clue,and the symptoms,etiology,pathogenesis and prognosis as the emphasis,this paper explores the development process of TCM oncology. Result:A total of 774 349 bytes of text data of 1 128 entries in 242 ancient books were included automatically. According to the findings, there were simple classification and time distribution of tumor diseases in ancient TCM books in the pre-Qin period, with a simple view on the pathogenesis of tumor diseases. From the Han dynasty to the Tang dynasty, the number of relevant literature records and the types and disease names had gradually increased,which further enriched the cognition of tumor nature,signs,classification methods,differential diagnosis;in Song and Ming dynasties,the proportion of Chinese prescription books and surgery books had increased gradually,with the largest number of abdominal organ tumor names among all dynasties;from Qing dynasty to the Republic of China,literatures relating to tumor name and classification were the most improved,and then the TCM tumor syndrome differentiation and treatment system had been formed. Conclusion:It was found that TCM oncology originated in the pre-Qin dynasty,and was improved in the Han and Tang dynasties, mature in the Song and Ming dynasties and completed in the Qing dynasty and the Republic of China. The data visualization method with integrated automation framework and parsing tools is helpful to analyze the subdivision characteristics of ancient TCM literatures,which is convenient,efficient and innovative,in the expectation to provide a classic reference for contemporary TCM studies.

6.
Journal of Experimental Hematology ; (6): 1275-1279, 2021.
Artigo em Chinês | WPRIM | ID: wpr-888552

RESUMO

OBJECTIVE@#To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/β complex thalassemia couple.@*METHODS@#The coding regions of α-globin genes (HBA1, HBA2) and β-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis.@*RESULTS@#Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/β complex thalassemia, one was β-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term.@*CONCLUSION@#Preimplantation genetic diagnosis can be carried out by NGS technology in α/β complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.


Assuntos
Feminino , Humanos , Gravidez , Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Diagnóstico Pré-Implantação , Talassemia alfa , Globinas beta/genética , Talassemia beta/genética
7.
Korean Journal of Radiology ; : 210-217, 2020.
Artigo em Inglês | WPRIM | ID: wpr-782106

RESUMO

200 µm, a circumference > 60 degrees, and a cap thickness < 450 µm. The percentage distributions of CT pixel attenuation ≤ 20, 30, 40, and 50 HU were calculated using quantitative histogram analysis.RESULTS: A total of 271 transverse sections were co-registered between CCTA and pathological analysis. Overall, 26 lipid cores and 16 fibrous plaques were identified by pathological analysis. There was no significant difference in median CT attenuation between the lipid and fibrous plaques (51 HU [interquartile range, 46–63] vs. 57 HU [interquartile range, 50–64], p = 0.659). The median percentage of CT pixel attenuation ≤ 30 HU accounted for 11% (5–17) of lipid-core plaques and 0% (0–2) of fibrous plaques (p < 0.001). The sensitivity and specificity of the method for diagnosing lipid plaques by the average CT pixel attenuation ≤ 30 HU were 80.8% and 87.5%, respectively. The area under the receiver operator characteristics curve was 0.898 (95% confidence interval: 0.765–0.970; 3.0% was the best cut-off value). The diagnostic performance was significantly higher than those of the average pixel CT attenuation percentages ≤ 20, 40, and 50 HU and the mean CT attenuation (p < 0.05).CONCLUSION: In in vivo conditions, with the pathological lipid core as the gold standard, quantification of the percentage of average CT pixel attenuation ≤ 30 HU in the histogram can be useful for accurate identification of lipid plaques.


Assuntos
Humanos , Angiografia , Doença das Coronárias , Vasos Coronários , Diagnóstico , Transplante de Coração , Métodos , Sensibilidade e Especificidade , Análise Espectral
8.
Chinese journal of integrative medicine ; (12): 762-768, 2020.
Artigo em Inglês | WPRIM | ID: wpr-827093

RESUMO

OBJECTIVE@#To investigate the effects of Da-Cheng-Qi Decoction (DCQD, ) combined with Lactobacillus acidophilus (LA) on the recovery of gastrointestinal (GI) function in traumatic brain-injured (TBI) mice.@*METHODS@#A total of 150 male C57BL/6 mice were randomly divided into sham-injury, normal saline (NS), DCQD (0.4 mL/day), LA (⩾1 × 10 cfu/day LA), DCQD+LA (LA administration at the same dosage after 4 h of feeding DCQD), and ½ DCQD+LA groups (LA administration at the same dosage after 4 h of feeding ½ DCQD dose) by a random number table, 5-8 mice in each group. The sever TBI model was constructed according to Feeney's enhanced gravitational forces of free falling. On days 1, 3, and 7 post-TBI, plasma diamine oxidase (DAO) and D-lactic acid levels were assessed by enzyme-linked immunosorbent assay (ELISA). Occludin expression in the intestinal epithelium was assessed by Western blot analysis. Transmission electron microscopy (TEM) was used to observe the morphological changes in the network structure of interstitial cells of Cajal (ICC) and change of enteric nervous system-ICC-smooth muscle cell (ENS-ICC-SMC). Immunofluorescence staining was used to detect changes in the network structure of the ICC.@*RESULTS@#Compared with the NS group, occludin expression in the DCQD+LA group significantly increased on Day 1, 3, and 7 post-TBI (P<0.05 or P<0.01). The concentration of DAO significantly decreased in the LA, DCQD, and DCQD+LA groups on Day 3 and 7, whilst the D-lactate concentrations in the LA and ½ DCQD+LA groups decreased on Day 1 and 3 post-injury (P<0.05 or P<0.01). The NS group experienced a great damage on the ENS-ICC-SMC network morphology and ICC network structure, and all treatment groups had some improvements, among which the DCQD+LA group presented relatively intact network morphology.@*CONCLUSIONS@#DCQD combined with LA treatment could effectively repair the intestinal mucosal barrier and improve GI motility in mice after TBI. The combination of DCQD and LA was more effective than their respective monotherapies.

9.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 213-221, 2020.
Artigo em Chinês | WPRIM | ID: wpr-873141

RESUMO

Patchouli Alcohol (PA) is the main bioactive constituent of Pogostemon cablin Pharmacological researches have reported various benefits of PA, including anti-infammatory, anti-gastric ulcer, anticancer, protecting against alung and brain injury, antibacterial, prevention of mastitis, colitis and arteriosclerosis, anti-photoaging, treatment of diarrhea irritable bowel syndrome, antioxidant stress, vasodilation and anti-injury.The preliminary study on the mechanism showed that anti-inflammatory effect was related to the down-regulation of mRNA expression of inflammatory mediators to inhibit the production of proinflammatory cytokines and the reduction of extracellular regulated protein kinases (ERK)-mediated nuclear factor kappa B (NF-κB) activation.The anti-gastric ulcer, protection of lung injury and brain injury and anti-photoaging were related to antioxidant and anti-inflammatory effects.The mechanism of anti-human leukemic cell line MV4-11 migh be associated with the changes of NF-κB, phosphorylated M2 pyruvate kinase (p-PKM2) and cysteine aspartate protease-3 (Caspase-3) protein expressions.The proposed mechanisms of anti-human colorectal cancer cells included the inhibition of histone deacetylase (HDAC)-2 expression and HDAC enzyme activity, and subsequent downregulation of c-myc and activation of NF-κB pathway.Apoptosis of A549 cells was induced by blocking the phosphorylation of epidermal growth factor receptor (EGFR) pathway and activating c-Jun N-terminal kinase (JNK). Anti-prostate cancer was related to the activation of mitochondrial cytochrome C apoptosis pathway, and its antiviral effect may be related to the regulation of RIG-1-like helicases (RLH) signal pathway or the direct binding of virus protein or nucleic acid and the binding site of virus to cells to block the adsorption of virus to cells.The mechanism of its antibacterial, prevention of mastitis, colitis and arteriosclerosis was closely related to anti-inflammation.The pharmacological effects of PA need to be further studied.In order to accelerate the exploration and discovery other molecular mechanism of PA, and expand its application prospects.This review comprehensively summarizes the metabolism, biological activities, and possible mechanism of PA, in order to provide references for the development and application of PA.

10.
Chinese Journal of Preventive Medicine ; (12): E017-E017, 2020.
Artigo em Chinês | WPRIM | ID: wpr-787741

RESUMO

To evaluate the exported risk of novel coronavirus pneumonia (NCP) from Hubei Province and the imported risk in various provinces across China. Data of reported NCP cases and Baidu Migration Indexin all provinces of the country as of February 14, 2020 were collected. The correlation analysis between cumulative number of reported cases and the migration index from Hubei was performed, and the imported risks from Hubei to different provinces across China were further evaluated. A total of 49 970 confirmed cases were reported nationwide, of which 37 884 were in Hubei Province. The average daily migration index from Hubei to other provinces was 312.09, Wuhan and other cities in Hubei were 117.95 and 194.16, respectively. The cumulative NCP cases of provinces was positively correlated with the migration index derived from Hubei province, also in Wuhan and other cities in Hubei, with correlation coefficients of 0.84, 0.84, and 0.81. In linear model, population migration from Hubei Province, Wuhan and other cities in Hubei account for 71.2%, 70.1%, and 66.3% of the variation, respectively. The period of high exported risk from Hubei occurred before January 27, of which the risks before January 23 mainly came from Wuhan, and then mainly from other cities in Hubei. Hunan Province, Henan Province and Guangdong Province ranked the top three in terms of cumulative imported risk (the cumulative risk indices were 58.61, 54.75 and 49.62 respectively). The epidemic in each province was mainly caused by the importation of Hubei Province. Taking measures such as restricting the migration of population in Hubei Province and strengthening quarantine measures for immigrants from Hubei Province may greatly reduce the risk of continued spread of the epidemic.

11.
Chinese Journal of Hematology ; (12): 98-104, 2019.
Artigo em Chinês | WPRIM | ID: wpr-1011935

RESUMO

Objective: To investigate the efficiency and safety of domestic tyrosine kinase inhibitor (TKI) dasatinib (Yinishu) as second-line treatment for patients with chronic myeloid leukemia in chronic phase (CML-CP). Methods: A retrospective analysis of clinical data of CML-CP patients who received domestic dasatinib as second-line treatment in the CML collaborative group hospitals of Hubei province from March 2016 to July 2018 was performed. The optimal response rate, the cumulative complete cytogenetic response (CCyR), the cumulative major molecular responses (MMR), progression free survival (PFS), event free survival (EFS) and adverse effects (AEs) of the patients were assessed at 3, 6 and 12 months of treatment. Results: A total of 83 CML-CP patients were enrolled in this study. The median follow-up time was 23 months. The optimal response rates at 3, 6 and 12 months in 83 CML-CP patients treated with dasatinib were 77.5% (54/71), 72.6% (61/75) and 60.7% (51/69), respectively. By the end of follow-up, the cumulative CCyR and MMR rates were 65.5% (55/80) and 57.1% (48/73), respectively. The median time to achieving CCyR and MMR was 3 months. During follow-up time, the PFS rate was 94.0% (79/83) and the EFS rate was 77.4% (65/83). The most common non-hematological AEs of dasatinib were edema (32.5%), rash itching (18.1%) and fatigue (13.3%). The common hematological AEs of dasatinib were thrombocytopenia (31.3%), leukopenia (19.3%) and anemia (6.0%). Conclusion: Domestic dasatinib was effective and safe as the second-line treatment of CML-CP patients and it can be used as an option for CML-CP patients.


Assuntos
Humanos , Antineoplásicos , Dasatinibe/uso terapêutico , Mesilato de Imatinib , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Inibidores de Proteínas Quinases , Estudos Retrospectivos , Resultado do Tratamento
12.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 160-165, 2019.
Artigo em Chinês | WPRIM | ID: wpr-801882

RESUMO

There are safety problems in traditional Chinese medicine(TCM) injections. Most of the adverse reactions of TCM injections are very similar to those of hypersensitivity reactions. The hypersensitivity reaction of macromolecular substances in TCM injections has also been confirmed by experiments. Polysorbate 80 (trade name of tween-80) is a solubilizing excipient commonly used in TCM injections. Polysorbate 80 contains macromolecular impurities and the material basic research is not clear enough, and its quality problems need to be solved urgently. Based on this, the authors concluded that the macromolecular impurities in polysorbate 80 were the important material basis for the safety of TCM injections contained polysorbate 80. In this paper, the research progress of application of polysorbate 80 as a solubilizing excipient in TCM injections was reviewed and analyzed, so as to provide ideas for improving the safety of TCM injections contained polysorbate 80 and to promote the healthy development of TCM injections.

13.
Chinese Journal of Hematology ; (12): 98-104, 2019.
Artigo em Chinês | WPRIM | ID: wpr-810461

RESUMO

Objective@#To investigate the efficiency and safety of domestic tyrosine kinase inhibitor (TKI) dasatinib (Yinishu) as second-line treatment for patients with chronic myeloid leukemia in chronic phase (CML-CP).@*Methods@#A retrospective analysis of clinical data of CML-CP patients who received domestic dasatinib as second-line treatment in the CML collaborative group hospitals of Hubei province from March 2016 to July 2018 was performed. The optimal response rate, the cumulative complete cytogenetic response (CCyR), the cumulative major molecular responses (MMR), progression free survival (PFS), event free survival (EFS) and adverse effects (AEs) of the patients were assessed at 3, 6 and 12 months of treatment.@*Results@#A total of 83 CML-CP patients were enrolled in this study. The median follow-up time was 23 months. The optimal response rates at 3, 6 and 12 months in 83 CML-CP patients treated with dasatinib were 77.5% (54/71), 72.6% (61/75) and 60.7% (51/69), respectively. By the end of follow-up, the cumulative CCyR and MMR rates were 65.5% (55/80) and 57.1% (48/73), respectively. The median time to achieving CCyR and MMR was 3 months. During follow-up time, the PFS rate was 94.0% (79/83) and the EFS rate was 77.4% (65/83). The most common non-hematological AEs of dasatinib were edema (32.5%), rash itching (18.1%) and fatigue (13.3%). The common hematological AEs of dasatinib were thrombocytopenia (31.3%), leukopenia (19.3%) and anemia (6.0%).@*Conclusion@#Domestic dasatinib was effective and safe as the second-line treatment of CML-CP patients and it can be used as an option for CML-CP patients.

14.
West China Journal of Stomatology ; (6): 660-665, 2019.
Artigo em Chinês | WPRIM | ID: wpr-781360

RESUMO

Platelet-rich plasma and platelet-rich fibrin (PRF) are widely used in the field of stomatology. Advance-ments in preparation techniques and basic research have enabled the use of PRF derivatives in oral clinical applications. The evolution, preparation techniques, biological properties, and medical research progress of PRF derivatives are reviewed in this paper.


Assuntos
Plaquetas , Leucócitos , Medicina Bucal , Fibrina Rica em Plaquetas , Plasma Rico em Plaquetas
15.
Chinese Journal of Natural Medicines (English Ed.) ; (6): 131-144, 2019.
Artigo em Inglês | WPRIM | ID: wpr-776900

RESUMO

Anemone flaccida Fr. Schmidt is a perennial medicinal herb that contains pentacyclic triterpenoid saponins as the major bioactive constituents. In China, the rhizomes are used as treatments for a variety of ailments including arthritis. However, yields of the saponins are low, and little is known about the plant's genetic background or phytohormonal responsiveness. Using one-quarter of the 454 pyrosequencing information from the Roche GS FLX Titanium platform, we performed a transcriptomic analysis to identify 157 genes putatively encoding 26 enzymes involved in the synthesis of the bioactive compounds. It was revealed that there are two biosynthetic pathways of triterpene saponins in A. flaccida. One pathway depends on β-amyrin synthase and is similar to that found in other plants. The second, subsidiary ("backburner") pathway is catalyzed by camelliol C synthase and yields β-amyrin as minor byproduct. Both pathways used cytochrome P450-dependent monooxygenases (CYPs) and family 1 uridine diphosphate glycosyltransferases (UGTs) to modify the triterpenoid backbone. The expression of CYPs and UGTs were quite different in roots treated with the phytohormones methyl jasmonate, salicylic acid and indole-3-acetic acid. This study provides the first large-scale transcriptional dataset for the biosynthetic pathways of triterpene saponins and their phytohormonal responsiveness in the genus Anemone.


Assuntos
Anemone , Genética , Metabolismo , Vias Biossintéticas , Genética , Sistema Enzimático do Citocromo P-450 , Genética , Metabolismo , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Glicosiltransferases , Genética , Metabolismo , Ácido Oleanólico , Metabolismo , Reguladores de Crescimento de Plantas , Farmacologia , Proteínas de Plantas , Genética , Metabolismo , Plantas Medicinais , Rizoma , Genética , Metabolismo , Saponinas , Metabolismo , Triterpenos , Metabolismo
16.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 144-149, 2019.
Artigo em Chinês | WPRIM | ID: wpr-817689

RESUMO

@#【Objective】To investigate the value of medical exome sequencing in copy number variation detection in genetic diseases. 【Methods】 Here we tested two separated cases. There are no similar symptoms except intelligent disability between the cases. Fragile X syndrome,G-banding,chromosome microarray and medical exome sequencing were sequenced tested for the two cases and their parents. 【Results】We found the copy number variants in both of the patients from the two families,which distributed from 11.4 kb to 13.03 Mb in size. The copy number variants were all verified by other technologies. 【Conclusion】 medical exome sequencing is useful for the detection of copy number variation in genetic diseases,although the value still need more verification.

17.
Chinese Journal of Practical Internal Medicine ; (12): 891-895, 2019.
Artigo em Chinês | WPRIM | ID: wpr-816121

RESUMO

OBJECTIVE: To evaluate clinical characteristics and treatment response of 100 patients with pure red cell aplasia(PRCA).METHODS: We retrospectively analyzed the clinical data of 100 adult patients with acquired PRCA from October2009 to July 2019, and compared the difference in efficacy between idiopathic and secondary patients.RESULTS: 100 patients were evaluated, including 60 idiopathic patients and 40 secondary patients.The most common reasons for secondary PRCA were large granular lymphocytic leukemia(LGLL)(28 cases,70.0%)and thymoma(6 cases, 15.0%). The remission induced regimens included corticosteroids(CS), cyclosporine A(CsA), or other agents, and the response rate were 66.7%,71.4% and 50%, respectively(P=0.336). Secondary PRCA was less effective than idiopathic PRCA(52.5%,78.3%,P=0.007). PRCA related to large granular lymphocytic leukemia was also less effective compared to idiopathic PRCA(46.4%,79.3%,P=0.003). When treated by CsA, idiopathic PRCA was more effective than secondary PRCA and LGLL related PRCA(P=0.001, P=0.000). Logistic regression analysis showed that lower response rate was related to secondary PRCA and LGLL related PRCA.CONCLUSION: The response rate were similar by different induced regimens. Idiopathic PRCA could acquired better response to CsA than secondary, LGLL related PRCA was less effective to treatment.

18.
Journal of Preventive Medicine ; (12): 59-62, 2018.
Artigo em Chinês | WPRIM | ID: wpr-792698

RESUMO

Objective To investigate the supportive care needs of liver cancer patients after interventional therapy and its influencing factors. Methods A total of 228 patients with primary liver cancer treated by interventional therapy were included. General demographic characteristics and clinical data were collected, and a questionnaire survey was conducted using 34 items of cancer patients' supportive care needs, a brief questionnaire(SCNS-SF34), Self-rating an Anxiety S cale(SAS)and a Self-rating Depression Scale(SDS). Multiple regression models were used to analyze the impact factors of demand domain score. Results The score of psychological needs, health systems and information needs, physiological and daily life needs, patient care and support needs, sexual needs of patients with liver cancer intervention were 3.15±1.31, 3.08±1.16, 2.96± 1.44, 2.60 ±1.09, and 2.60 ±1.09, rescpectively. Anxiety and depression were found in 37.19% and 46.31% of patients, respectively. The average scores of SAS and SDS were 46.79 and 51.49. Multiple linear regression analysis showed that the psychological needs of patients with scores of age and education were negatively correlated. SAS score of patients with mental health score system and demand, information demand and demand areas were positively correlated. Women patients with high SDS scores, has high score of physical and daily life needs . The score of patient care and support were positively correlated to clinical requirements in the field of TNM stage. Conclusion The medical staff should support the intervention for the different demands and the bad mental state of the patients after liver cancer interventional surgery, and effectively improve the patient's compliance and improve their quality of life.

19.
Journal of Shanghai Jiaotong University(Medical Science) ; (12): 435-438, 2018.
Artigo em Chinês | WPRIM | ID: wpr-695685

RESUMO

Objective·To analyse the relating factors that influence the prognosis of chronic subdural hematoma(CSDH) after drilling drainage and to explore the bilateral bleeding risk factors of CSDH.Methods·Four hundred and forty patients with CSDH who underwent drilling drainage were retrospectively analysed.Clinical data,including medical history,signs,blood coagulation function and imaging examination were collected.Spearman correlation analysis and ordinal Logistic regression analysis were performed to assess the relationships between various variables and the prognosis,and univariate analysis and multivariate Logistic regression analysis were performed to explore the risk factors that lead to the occurrence of bilateral bleeding.Results·Spearman correlation analysis indicated that age,medication history of anticoagulant drugs,bilateral hematoma or not,the thickness of the hematoma and volume of intracranial gas on the first post-surgery day and preoperative Markwalder grade were associated with postoperative Markwalder grade (P<0.05).Ordinal Logistic regression analysis showed that medication history of anticoagulant drugs and preoperative Markwalder grade were the independent risk factors (P=0.028,P=0.000).Univariate analysis of the bilateral bleeding indicated that age,medication history of anticoagulant drugs and thrombin time were statistically different between unilateral and bilateral CSDH (P<0.05).Multivariate Logistic regression analysis revealed that thrombin time was the independent risk factor (OR=1.147,95%CI1.005-1.309,P=0.042).Conclusion·Age and medication history of anticoagulant drugs were closely related to the bilateral chronic subdural hematoma.The higher the preoperative Markwalder grade is,the higher the postoperative Markwalder grade is.The prognosis of patients without anticoagulant drugs is better than those users.

20.
Journal of Shanghai Jiaotong University(Medical Science) ; (12): 85-88, 2018.
Artigo em Chinês | WPRIM | ID: wpr-695619

RESUMO

Objective·To study the application of occipitocervical fusion and fixation in malformation of craniocervical junction surgery.Methods·Thirty-six consecutive patients with craniocervical junction malformation were decompressed under evoked-potential monitoring.Sixteen patients were treated with posterior occipitocervical fusion and fixation using Vertex screw-hook system,and 11 using Vertex screw-rod system,other patients using Mountaineer OCT spinal system.All patients were followed up for 2 to 12 years (mean 7 years).The recovery rate was analysed based on the scoring system of the Japanese Orthopaedic Association (JOA).Results·All the patients were followed up.A stable bony fusion according to radiological criteria was achieved in all cases.There was no implant broken and dislocation.The improvement rate according to JOA scoring system were evaluated.Twenty-four cases (66.7%) got cured;4 cases (11.1%) had remarkable effects;8 cases (22.2%) were effective;none was ineffective.Conclusion·Occipitocervical stabilizations hope to be restored through occipitocervical fusion and fixation.Good results can be obtained in most patients with complete radiological data,proper surgery indication,suitable surgical modality and internal fixation materials.

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