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1.
Inorg Chem ; 61(42): 16632-16638, 2022 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-36239459

RESUMO

Single crystals and polycrystalline samples of Ho5Pd4Sn12 have been synthesized using flux and arc-melting methods, respectively. Single-crystal X-ray diffraction studies indicate that Ho5Pd4Sn12 crystallizes in a tetragonal structure (I4/m) at room temperature and transforms into a monoclinic structure (C2/m) below ∼194 K. This structural transition is further supported by a transmission electron microscopy study and an anomaly at ∼194 K in the specific heat data. Temperature-dependent resistivity data also show a kink around the structural transition temperature. Ho5Pd4Sn12 is antiferromagnetically ordered below 7 K. Ho5Pd4Sn12 shows magnetic anisotropy, and the isothermal magnetization curve (H⊥c) at 2 K exhibits a field-induced magnetic phase transition around 22.8 kOe.

2.
Pak J Pharm Sci ; 29(6 Spec): 2141-2146, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28412669

RESUMO

Our study aimed to investigate the measurement of frontal lobe volume and thalamic volume in fetuses with congenital heart disease (CHD) at different gestational weeks using three dimensional (3-D) ultrasonography and its clinical value. Then, 238 pregnant women who received obstetric ultrasonography in ultrasound department of Internal Medicine of our hospital were enrolled between March 2013 to April 2014. In this study, 85 fetuses were diagnosed to develop CHD by prenatal fetal echocardiography, and the other 153 fetuses were normal. Frontal lobe volume, thalamic volume and cerebral blood flow was determined by color Doppler ultrasonic diagnostic apparatus (type: GE Voluson E8). The level of MCA-PI and CPR in CHD fetus group performed significantly lower than that in normal fetus group (P<0.05), but the level of UA-PI performed significantly higher than that in normal fetus group (P<0.05). When gestational age <30 weeks, there was no significant difference in thalamic volume and frontal lobe volume between the two groups (P<0.05); when gestational age <30 weeks, the level of CHD fetus group performed significantly lower thalamic volume and frontal lobe volume than that in normal fetus group (P<0.05). When gestational age <30 weeks, there was no significant difference in BPD, HC, and GA between the two groups (P<0.05); when gestational age <30 weeks, the level of BPD, HC and GA in CHD fetus group performed significantly lower than that in normal fetus group (P<0.05). If gestational age <30 weeks, CHD performed a small impact on fetal frontal lobe volume and thalamic volume; if gestational age <30 weeks, the level of frontal lobe volume and thalamic volume in fetuses with CHD performed significantly lower than that in normal fetuses.

3.
Microb Pathog ; 63: 54-8, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23823084

RESUMO

Mycoplasmas are widely distributed among animals, plants, and human. The four species namely, Mycoplasmas genitalium(Mg), Mycoplasmas fermentans(Mf), Mycoplasmas pentrans(Mpe), Mycoplasmas pirum(Mpi) are also called AIDS-associated mycoplasmas due to their involvement in the development and outcome of AIDS. To investigate the infection prevalence of Mg, Mf, Mpe and Mpi among male HIV/AIDS patients in Jiangsu Province and to analyze the relationship between pathogenic mycoplasmas and cellular immune function of them. First void urine and venous blood samples were collected and epidemiology questionnaires were administered after informed consent. Nested PCR was performed to determine the infection of Mg, Mf, Mpe and Mpi while ELISA assay was applied to detect interleukin-2(IL-2), interferon-γ(IFN-γ) and tumor necrosis factor-α(TNF-α). SAS 9.0 software was applied to analyze the data. A total of 713 HIV/AIDS patients were recruited in this study. The overall infection rates of Mg, Mf, Mpe and Mpi are 27.9%, 9.7%, 1.0% and 18.4% respectively. Generally, the infection rates of Mg(χ(2) = 10.311, P = 0.006) and Mpi were declined as the CD4+ cell counts increased, while Mf infection was higher in CD4+ T cell>350/µl group. The levels of cytokines are different with the variance of mycoplasmas infection. Mycoplasma infection among male HIV/AIDS patients is associated with changes in cellular immune response (cytokines). However, the affect of mycoplasmas on the immune function is complex, further studies are still required to elucidate whether mycoplasmas interact with HIV by interfering host immune system.


Assuntos
Infecções por HIV/complicações , Infecções por Mycoplasma/epidemiologia , Mycoplasma/isolamento & purificação , Sangue/microbiologia , Contagem de Linfócito CD4 , China , Citocinas/metabolismo , Infecções por HIV/imunologia , Humanos , Masculino , Prevalência , Inquéritos e Questionários , Urina/microbiologia
4.
Int J Rheum Dis ; 26(5): 946-949, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36584982

RESUMO

Rheumatoid arthritis (RA) is a chronic inflammatory disease, which typically affects the small joints of the hands and feet. Anti-rheumatism drugs should be promptly administered upon a diagnosis. Without standardized treatment, patients are prone to different degrees of deformities in the later stages of disease development, which negatively impact quality of life. We here report a case of a 52-year-old woman with an 18-year history of RA. After intermittent immunotherapy with anti-rheumatism drugs, the patient presented with multiple joint pain, dislocation, and disintegration of the bone. The interphalangeal joints of both hands were deformed to varying degrees and movement was significantly limited. After anti-rheumatism treatment, the patient experienced reduced joint pain. This case should enhance understanding and serve as a guide for patient management toward the prevention of joint deformities caused by RA.


Assuntos
Artrite Reumatoide , Luxações Articulares , Doenças Reumáticas , Feminino , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , Artrite Reumatoide/diagnóstico , Articulações , Artralgia
5.
Parasitol Res ; 107(4): 873-8, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20549236

RESUMO

Schistosomiasis due to Schistosoma japonicum is a major public health problem in China. Since 1995, artesunate has been used to treat and prevent schistosome infections in China. Artesunate previously showed a high prophylactic efficacy against schistosome infection, with a protection rate of 100%. However, recent clinical trials and animal experiments have found that the sensitivity of many schistosomes to artesunate, including Schistosoma mekongi and Schistosoma mansoni, decreased. Whether the prophylactic efficacy of artesunate on Schistosomiasis japonica decreased after being used over 10-year period was still unknown. In the current study, we conducted a double-blind trial and found that the protection rate of artesunate was only 13.5% in the Administration I group, whose dosage schedule was identical to schedules used in previous studies. Therefore, the sensitivity of S. japonicum to artesunate was confirmed to have decreased after being using for over 10 years. Moreover, when we increased the concentration of artesunate during the first week and third week, the protection reached 74.8%.


Assuntos
Anti-Helmínticos/administração & dosagem , Artemisininas/administração & dosagem , Schistosoma japonicum/efeitos dos fármacos , Esquistossomose Japônica/tratamento farmacológico , Adulto , Animais , Artesunato , China , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
6.
Artigo em Chinês | WPRIM | ID: wpr-1039628

RESUMO

ObjectiveTo explore the role of saikosaponin D (SSD) targeting signal transducer and activator of transcription 3 (STAT3) in inducing apoptosis of bladder cancer cells by computer-aided drug design and experimental verification. MethodThe druggability and biotoxicity of SSD were explored by Bayesian classifier modeling. The information about SSD, the active ingredient of Bupleuri Radix, was searched against the Traditional Chinese Medicine Systematic Pharmacology Database and Analysis Platform (TCMSP). The targets of SSD were predicted by PubChem, TCMSP, a Bioinformatics Analysis Tool for Molecular mechANism of Traditional Chinese Medicine (BATMAN-TCM), Coremine, an Encyclopedia of Traditional Chinese Medicine (ETCM), and SwissTargetPrediction. GeneCards, Therapeutic Target Database (TTD), and Online Mendelian Inheritance in Man (OMIM) were employed to predict the potential therapeutic targets of bladder cancer. Then, the common targets shared by SSD and bladder cancer were selected for Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses. Molecular docking was adopted to explore the binding affinity and structural stability of SSD with target proteins. Cytoscape 3.9.1 was used to construct the STAT3-drug regulatory network and STAT3-apoptosis regulatory network. UM-UC-3 cells were treated with 0, 5, 10, 15 μmol·L-1 SSD for 24 h. Then, flow cytometry was used to detect the apoptosis of bladder cancer cells, and Western blot was employed to determine the protein levels of B-cell lymphoma-2 (Bcl-2), Bcl-2-associated X protein (Bax), Bcl-2-associated death promoter (Bad), STAT3, and phosphorylation (p)-STAT3. ResultBayesian classifier modeling and molecular docking showed that SSD had low biotoxicity and bound well to the target protein STAT3 to form a stable protein-ligand complex. There were 282 common targets between bladder cancer and SSD, among which STAT3 was the most central target. The GO enrichment analysis showed that the potential core therapeutic targets involved 3 036 biological processes, 82 cellular components, and 171 molecular functions. The KEGG enrichment analysis showed that the potential core targets were mainly related to the C-type lectin receptor signaling pathway, Toll-like receptor signaling pathway, and cell apoptosis pathway. The STAT3-drug regulatory network and STAT3-apoptosis regulatory network showed that 29 drugs interacted with STAT3, and 27 apoptosis-related genes had a strong correlation with STAT3. Flow cytometry showed that the apoptosis rate increased with the increase in SSD concentration (P<0.05). Western blotting results showed that SSD down-regulated the protein levels of p-STAT3 and Bcl-2 and up-regulated the protein levels of Bax and Bad in a concentration-dependent manner (P<0.05). ConclusionSSD has good druggability and low biotoxicity. It may promote the apoptosis of bladder cancer cells by targeting STAT3.

7.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 30(3): 339-342, 2018 May 28.
Artigo em Chinês | MEDLINE | ID: mdl-30019567

RESUMO

OBJECTIVE: To understand the knowledge, usage, applicability of the standard and the suggestions on the implementation of Criteria for Control and Elimination of Malaria (GB 26345-2010) among malaria prevention and control staff of disease control and medical institutions at all levels in Yunnan Province, so as to provide the evidence for the implementation and revision of the standard. METHODS: Malaria prevention and control workers at 192 institutions in 16 prefectures and cities of Yunnan Province were surveyed. The malaria prevention and treatment workers at county-level center for disease control and prevention (CDCs), county-level medical institutions and township hospitals in Tengchong City and Yingjiang County of Yunnan Province were investigated on the spot. The knowledge and usage, problems and recommendations encountered in the implementation of the standard were collected. RESULTS: Totally 444 questionnaires were collected, of which 428 were valid and the valid rate of questionnaires was 96.4%. Among them, the proportion of those who knew the standard was 86.7% (371/428), and the channel of knowledge acquirement was mainly the education and training, accounting for 50.7% (188/371). The total awareness rate of objective indicators in the standard content was 65.9% (282/428). Among the frequency of utilization, the "occasional use" of this standard was the majority, accounting for 33.6% (144/428). Among the applications, the highest proportion of applying to the "regular malaria prevention and control work" was 59.3% (191/322), and only 19.3% (62/322) applied to the "assessment for malaria elimination". In the standard suitability assessment, the proportion of considering the standard to be fully applicable was 91.3% (391/428), and the proportion of considering the standard to be revised was 8.7% (37/428). The agencies where the respondents were located have taken corresponding measures to promote the implementation of the standard. A total of 43 proposals for the implementation of the standard were collected, relating to personnel and supporting conditions. CONCLUSIONS: Combined with the actual situation, the standard should be strengthened practically. At the same time, the standard learning, training, and publicity should be strengthened to raise the implementation level. Its implementation in Yunnan Province should be sequentially consolidated and steadily promoted.


Assuntos
Erradicação de Doenças , Malária , China/epidemiologia , Erradicação de Doenças/métodos , Erradicação de Doenças/normas , Objetivos , Humanos , Malária/epidemiologia , Malária/prevenção & controle
8.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 30(5): 575-577, 2018 Aug 16.
Artigo em Chinês | MEDLINE | ID: mdl-30567036

RESUMO

The criteria for the Kato-Katz thick smear are compiled following the Management Measures for Health Criteria and GBT 1.1-2009 Standardization Working Guidelines. The criteria are composed of five chapters, including the range of application, terms and definitions, equipments, reagent materials, and testing procedures. Three informative appendices (identification of helminth eggs in human faeces, counting method of eggs in Kato-Katz thick smear, and other considerations) are appended. The criteria have been issued by the National Health and Family Planning Commission of the People's Republic of China, it provides a technical reference for the detection of helminth eggs in human faeces in medical institutions and disease prevention and control institutions.


Assuntos
Helmintos , Intestinos , Contagem de Ovos de Parasitas , Animais , China , Fezes/parasitologia , Humanos , Intestinos/parasitologia , Contagem de Ovos de Parasitas/métodos , Sensibilidade e Especificidade
9.
Chinese Journal of Neuromedicine ; (12): 301-305, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1035814

RESUMO

Paroxysmal sympathetic hyperactivity (PSH) is mainly secondary to a variety of acquired brain injuries, with the highest incidence of traumatic brain injury. Multiple symptoms such as paroxysmal tachycardia, shortness of breath, hypertension, hyperthermia and dystonia can occur simultaneously and repeatedly. The pathophysiological mechanism of PSH is complex. At present, drug treatment is mainly used to control symptoms; however, the combined use of multiple drugs will bring different degrees of toxic and side effects to multiple organs such as liver, kidney and lung while inhibiting sympathetic excitement. This paper mainly reviews the recent advance in non-drug treatment of PSH after craniocerebral injury from 4 aspects: nutritional support, hyperbaric oxygen therapy, avoidance of adverse stimulation and family support to standardize the PSH comprehensive management, and reduce episodes in order to improve prognosis and provide reference for clinical treatment.

10.
Artigo em Chinês | WPRIM | ID: wpr-970506

RESUMO

The chemical constituents from the fruits of Morinda citrifolia were systematically explored by chromatographic fractionation methods including silica gel, octadecylsilyl(ODS) gel, Sephadex LH-20 gel, and preparative high performance liquid chromatography(pre-HPLC). The chemical structures of all isolated compounds were identified on the basis of their physicochemical properties, spectroscopic analyses, as well as the comparisons of their physicochemical and spectroscopic data with the reported data in literature. As a result, 22 isolated compounds from the 90% ethanol extract of the fruits of M. citrifolia were identified, which were moricitritone(1), 2'-deoxythymidine(2), cyclo-(L-Pro-L-Tyr)(3), methyl-5-hydroxy-2-pyridinecarboxylate(4), methyl pyroglutamate(5), bisbenzopyran(6), epipinoresinol(7), 3, 3'-bisdemethyl pinoresinol(8), 3, 3'-bisdemethyltanegool(9), trimesic acid(10), crypticin B(11), kojic acid(12), vanillic acid(13), protocatechoic acid(14), 5-hydroxymethyl furfural(15), blumenol A(16), 1-O-(9Z, 12Z-octadecadienoyl) glycerol(17), mucic acid dimethylester(18), methyl 2-O-β-D-glucopyranosylbenzoate(19), 2-phenylethyl-O-β-D-glucoside(20), scopoletin(21), and quercetin(22). Among them, compound 1 was a new pyrone derivative, compounds 2, 4-7, 10-12, and 17 were isolated from the plants belonging to Morinda genus for the first time, and compound 18 was obtained from M. citrifolia for the first time. Moreover, on the basis of testing the activities of all isolated compounds on inhibiting the proliferation of synovial fibroblasts in vitro by MTS assay, the anti-rheumatoid arthritis activities of all isolated compounds were initially evaluated. The results showed that compounds 1-6, 9, 19, and 20 exhibited remarkable anti-rheumatoid arthritis activities, which displayed the inhibitory effects on the proliferation of MH7A synovial fibroblast cells with the IC_(50) values in the range of(3.69±0.08) to(168.96±0.98) μmol·L~(-1).


Assuntos
Frutas/química , Morinda/química , Sinoviócitos , Proliferação de Células , Artrite
11.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 29(5): 538-540, 2017 Oct 17.
Artigo em Chinês | MEDLINE | ID: mdl-29469343

RESUMO

Clonorchis sinensis infection is carcinogenic to human, which results in cholangiocarcinoma, confirmed by the World Health Organization. An investigation in 2005 indicated that the standardized C. sinensis infection rate was 0.58%, with 12 490 000 infected people estimated in the clonorchiasis endemic areas in China. In the world, 80% of C. sinensis infected people were distributed in China. Diagnostic Criteria for Clonorchiasis (WS309-2009) was compiled by the ex-Ministry of Health of the People's Republic of China and it was issued and implemented in March 13, 2009. The Diagnostic Criteria for Clonorchiasis is composed of six chapters, including the Range of Application, Terms and Definitions, Diagnostic Basis, Diagnostic Principle, Diagnostic Standard, and Differential Diagnosis. Three informative appendices (etiology, epidemiology, clinical manifestation; enzyme-linked immunosorbent assay; differential diagnosis) and one normative appendix (laboratory examination) are appended. The Criteria provides the technical reference for diagnosis of clonorchiasis in medical institutions and disease control institutions. Combined with the current epidemic situation of clonorchiasis in China, this paper interprets the main contents of the Diagnostic Criteria for Clonorchiasis (WS309-2009), so as to promote its learning and implementing.


Assuntos
Clonorquíase/diagnóstico , Animais , China , Clonorchis sinensis , Diagnóstico Diferencial , Humanos , Organização Mundial da Saúde
12.
Artigo em Chinês | WPRIM | ID: wpr-927417

RESUMO

OBJECTIVE@#To compare the effect of combination of intradermal needling with oral motor therapy and simple oral motor therapy on salivation in children with cerebral palsy.@*METHODS@#A total of 60 children with salivation in cerebral palsy were randomized into an observation group and a control group, 30 cases in each group. The observation group was treated with intradermal needling (kept for 24 hours each time at Jiache [ST 6], Dicang [ST 4], tongue three needles, etc. ) and oral motor therapy, while the control group was only given oral motor therapy. The intradermal needling was performed 3 times a week, and oral motor therapy was performed 5 times a week, 4 weeks as a course, totally 3 courses of treatment were required. The classification of teacher drooling scale (TDS), drooling severity and Kubota water swallow test, dysphagia disorders survey (DDS) score were compared before treatment and after 4, 8 and 12 weeks of treatment in both groups, and the clinical efficacy was evaluated.@*RESULTS@#After 8 weeks of treatment in the observation group and after 12 weeks of treatment in the two groups, the classification of TDS and drooling severity were improved (P<0.05), and the observation group was better than the control group after 12 weeks of treatment (P<0.05). After 8 and 12 weeks of treatment, the DDS scores of oral period in the observation group were lower than those before treatment (P<0.05). The total effective rate in the observation group was 83.3% (25/30), which was higher than 53.3% (16/30) in the control group (P<0.05).@*CONCLUSION@#The combination of intradermal needling with oral motor therapy can improve salivation symptoms and swallowing function in children with cerebral palsy, the effect is better than oral motor therapy alone, and the effect is earlier.


Assuntos
Criança , Humanos , Pontos de Acupuntura , Terapia por Acupuntura , Paralisia Cerebral/terapia , Transtornos de Deglutição/terapia , Salivação , Sialorreia/terapia , Resultado do Tratamento
13.
Artigo em Inglês | WPRIM | ID: wpr-939918

RESUMO

Four new diphenyl ethers, named epicoccethers K-N (1-4), were purified from the fermentation medium of a fungus Epicoccum sorghinum derived from Myoporum bontioides, and identified through HR-ESI-MS and NMR spectral analysis. Except that compound 1 showed moderate antifungal activity against Penicillium italicum and Fusarium graminearum, the other three compounds showed stronger activity against them than triadimefon. All of them showed moderate or weak antibacterial activity towards Staphylococcus aureus and Escherichia coli with O6 and O78 serotypes except that 3 was inactive to E. coli O6.


Assuntos
Antibacterianos/farmacologia , Antifúngicos/química , Ascomicetos , Escherichia coli , Testes de Sensibilidade Microbiana , Estrutura Molecular , Éteres Fenílicos/química
14.
Artigo em Chinês | WPRIM | ID: wpr-930574

RESUMO

Objective:To investigate the safety and efficacy of self-made multifunctional endoscopic instrument accessory stent in endoscopic mucosal dissection (ESD).Methods:A total of 80 patients who received ESD in 924th Hospital of Joint Logistic Support Force of Chinese People′s Liberation Army from May 2019 to February 2021 were selected as research object. Random number table method was used to divide patients into control group and experimental group, 40 cases in each group. The experimental group used self-made endoscopic instrument accessory stent, and the control group did not use self-made endoscopic instrument accessory stent. The length of operation, the number of instruments taken by mistake, the number of instruments polluted during operation and the infection of postoperative 3-7 days under the same operation position, operating doctors and nurses were analyzed and compared between the two groups.Results:The incidence of instruments taken by mistake, the incidence of instruments polluted during operation and the infection rate of postoperative 3-7 days were 0.9% (8/856), 1.4% (12/856) and 2.5% (1/40) in the experimental group, which in the control group were 10.8% (96/887), 11.8% (105/887) and 15.0% (6/40) respectively, there were significant differences between the two groups ( χ2=75.92, 75.76, 3.91, all P<0.05). The length of operation in the experimental group was (51.56 ± 2.32) min, and that in the control group was (79.02 ± 2.83) min, the difference was statistically significant ( t=-8.72, P<0.05). Conclusions:When the patients underwent ESD surgery, the self-made multifunctional accessory stent was used to place the required instrument accessory. The length of operation was shorter, the incidence of instruments taken by mistake, the incidence of instruments polluted during operation and the infection rate of postoperative 3-7 days were reduced, the quality of minimally invasive endoscopic surgery was improved.

15.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 28(6): 678-682, 2016 Dec 05.
Artigo em Chinês | MEDLINE | ID: mdl-29469261

RESUMO

OBJECTIVE: To evaluate the risk assessment model of Cryptosporidium laboratory, so as to provide the basis for laboratory personnel engaging in the operation of Cryptosporidium. METHODS: Firstly, the risk factors of Cryptosporidium infection in laboratory were determined by the literature and Delphi, and then the weights of risk factors were determined by fuzzy analytic hierarchy process. A risk assessment model for laboratory biosafety of Cryptosporidium was established. RESULTS: Compared to the indexes, based on the risk assessment model, stool sample processing was the two steps in the laboratory with high risk of infection and high risk factors, with the combination weights of risk possibility and hazard rating were 0.111 and 0.107, respectively. CONCLUSIONS: The risk assessment model established is feasible. It can be used to make some suggestions for the related laboratory staff.


Assuntos
Contenção de Riscos Biológicos , Criptosporidiose/prevenção & controle , Laboratórios , Medição de Risco , Animais , Cryptosporidium
16.
Artigo em Chinês | WPRIM | ID: wpr-882037

RESUMO

The invalid patents associated with schistosomiasis control were retrieved in the Chinese Patent Database of China National Intellectual Property Administration, the Baiten database and the incoPat database, and the overall trends, legal status, types, patent indexing and technical fields of all retrieved invalid patents were analyzed. As of December 30, 2020, there were totally 859 patents relating to schistosomiasis control, and 512 were invalid patents, with an invalid rate of 59.6%. The number of patent applications and invalid patents peaked in 2018, including 71 patent applications and 53 invalid patents. Among the 511 schistosomiasis control-related invalid patents with complete records, there were 425 invention patents, 81 utility model patents and 5 design patents, and 219 patents (42.9%) were invalid due to the termination of the patented right and 292 (57.1%) due to loss of the right for patent applications. The major technical points included medicines (chemicals), basic research, devices and detections, and the specialized fields were mainly concentrated in A61P33, G01N33, C12N15, C07K14 and A01N65. Our data demonstrate a high invalid rate of patents relating to schistosomiasis control in China. Secondary development and mining of the invalid patents in relation to schistosomiasis are recommended to make use of their values in the national schistosomiasis elimination program of China.

17.
Artigo em Chinês | WPRIM | ID: wpr-922020

RESUMO

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.


Assuntos
Criança , Humanos , Recém-Nascido , Masculino , Aquaporina 2/genética , Diabetes Insípido Nefrogênico/genética , Diabetes Mellitus , Biologia Molecular , Mutação , Linhagem , Receptores de Vasopressinas/genética
18.
Journal of Leukemia & Lymphoma ; (12): 458-464, 2020.
Artigo em Chinês | WPRIM | ID: wpr-862866

RESUMO

Objective:To investigate the gene mutation and expression profiles in patients with acute lymphoblastic leukemia (ALL) and the effect of gene mutations on the prognosis of patients.Methods:DNA samples from 128 newly diagnosed ALL patients in the First Affiliated Hospital of Soochow University from June 2016 to June 2017 were collected. The targeted specific next-generation sequencing technology was used to analyze 51 gene mutations related to hematological malignancies, and the occurrence spectrum was described. Because the gene mutation spectrum varied with the subtype of disease, the gene mutations involved 8 types of pathways including DNA methylation, chromosomal modification, transcriptional regulation, tumor suppression, signal transduction, RNA splicing, adhesive complexes and other pathways. The effects of clinical factors and gene mutations on overall survival (OS) and relapse-free survival (RFS) were analyzed by Kaplan-Meier method and Cox regression model.Results:Of the 128 patients, the results of next-generation sequencing showed that 86 patients (67.2%) harbored at least one mutation, and 27 patients (21.1%) harbored ≥3 mutations based on the next-generation sequencing. In all ALL patients, the genes with high mutation rates were JAK (10.9%, 14/128), NOTCH1 (10.1%, 13/128), KRAS (8.6%, 11/128), SETD2 (7.0%, 9/128), CSMD1 (7.0%, 9/128), ETV6 (7.0%, 9/128), and RUNX1 (7.0%, 9/128). In B-cell acute lymphoblastic leukemia (B-ALL) patients, the genes with high mutation rates were KRAS (9.4%, 10/106), CSMD1 (7.5%, 8/106), JAK (7.5%, 8/106), PTPN11 (6.6%, 7/106), SETD2 (5.7%, 6/106), TET2 (5.7%, 6/106), TP53 (5.7%, 6/106), and PAX5 (5.7%, 6/106). While in T-cell acute lymphoblastic leukemia (T-ALL) patients, the genes with high mutation rates were NOTCH1 (54.5%, 12/22), PHF6 (27.3%, 6/22), JAK (27.3%, 6/22), RUNX1 (22.7%, 5/22), and ETV6 (18.2%, 4/22). In 128 ALL patients, the total frequency of gene mutations was 181 times. Among them, signal transduction, transcriptional regulation, tumor suppression and chromosomal modification-related gene mutations occurred more frequently, and similar phenomena were found in T-ALL and B-ALL. In terms of clinical features, male patients were more likely to present gene co-mutations( P=0.002), and mutations involved in tumor suppressor pathways were also more common in male patients ( P=0.054). The older the patient, the greater the possibility of mutations involved in transcriptional regulation and DNA methylation regulatory pathway-related genes ( P=0.067, P=0.009). T-ALL was more susceptible to have gene mutations than B-ALL ( P=0.002), and easily had gene co-mutations ( P < 0.01), and mutations mainly involved in signal transduction, transcriptional regulation, tumor suppression and chromosome modification were dominant (all P < 0.05). Cox regression univariate analysis showed that younger age of onset and allogeneic hematopoietic stem cell transplantation could significantly prolong the OS time of ALL patients ( P=0.005, P=0.003), but the difference was not statistically significant on RFS (both P > 0.05). However, 8 types of regulatory pathways were irrelevant to OS and RFS in ALL patients (all P > 0.05). The ALL patients with JAK gene mutation had short OS time ( P=0.024). Conclusions:Gene mutations are prevalent in ALL patients, the frequency spectrum varies with the subtype of disease and involves a variety of signaling pathways. Among them, signal transduction, transcriptional regulation, tumor suppression and chromosomal modification pathway-related genes have high mutation rates. The co-occurrence of gene mutations is a frequently phenomenon in ALL patients and it indicates genetic complexity and instability of ALL patients. JAK family gene mutations usually indicate poor prognosis, but the effects of other gene mutations on the prognosis of ALL need to be further explored.

19.
Neurology Asia ; : 313-317, 2020.
Artigo em Inglês | WPRIM | ID: wpr-877264

RESUMO

@#This study aimed to investigate the clinical efficacy of pulsed radiofrequency (PRF) of the dorsal root ganglion (DRG) with pain management as treatment of post-herpetic neuralgia (PHN). A total of 78 patients with PHN in the thoracolumbar region were randomly divided into two groups (n = 39 for each group): Group A, oral drug treatment only; Group B, DRG PRF of the thoracic spinal nerve combined with oral drug treatment. The numerical rating scale (NRS) scores of both groups were observed before treatment and at 1, 4, 8, and 12 weeks after treatment. The results showed that the NRS scores of both groups were significantly decreased after treatment (P < 0.05). In addition, the NRS score in Group B decreased significantly more than in Group A (P < 0.05). In conclusion, DRG PRF with pain management is a safe and effective treatment for elderly PHN patients, and it can quickly alleviate pain symptoms.

20.
Journal of Tropical Medicine ; (12): 1327-1331, 2019.
Artigo em Chinês | WPRIM | ID: wpr-815782

RESUMO

@#Abstract:Objective To develop a colloidal gold immunochromatographic strip ⁃ based method for the rapid detection of Zika virus(ZIKV)NS1 antigen. Methods The gold nanoparticles modified with the anti⁃ZIKV NS1 monoclonal antibody as the detection probe were coated on the glass ⁃fiber pad. The anti ⁃ZIKV NS1 monoclonal antibody and the goat anti ⁃mouse polyclonal antibody were immobilized on a nitrocellulose membrane as the test line and the control line,respectively. In order to achieve critical results,the ratio of the optical density (OD)of the test line to that of the control line was compared. Serial diluted ZIKV NS1 standard antigen was applied to evaluate sensitivity of the immunoassay. The culture supernatant and serum samples for arboviruses(ZIKV,Dengue virus, Japanese encephalitis virus and Chikungunya virus) were utilized to demonstrate the specificity of the method. Results The detection result could read by naked eyes within 20 minutes. The visual cut ⁃off level for the test strip was achieved at 100 ng/mL of the Zika virus NS1 standard antigen. No cross⁃reactions with Dengue virus,Japanese encephalitis virus and Chikungunya virus were observed. The strip could remain good stability within 36 weeks whether stored in 4 ℃ or room temperature(22-25 ℃). Conclusion Apart from stability, the method was convenient,rapid and specific for ZIKV NS1 antigen,which showed a promising potential in the point of care test and the screening test.

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