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1.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 54(11): 773-777, 2019 Nov 09.
Artigo em Chinês | MEDLINE | ID: mdl-31683386

RESUMO

Characterized by eminent mechanical properties, chemical stability and biosafety, polyetheretherketone (PEEK), as a brand-new type of biomedical material, has been applied in the field of stomatology. This review elaborates on basic behaviors and fabrication methods of PEEK and its composite, and their application in fixed dental prostheses (FDP) as frameworks as well as their adhesive properties. Meanwhile, this review also looks into the prospect of the integration of additive manufacturing in fabricating frameworks of PEEK and its composite in FDP.

2.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(11): 1098-1103, 2019 Nov 06.
Artigo em Chinês | MEDLINE | ID: mdl-31683394

RESUMO

Objective: To describe the status of non-steroidal anti-inflammatory drugs (NSAIDs) use in areas with a high incidence of upper gastrointestinal cancer in China. Methods: This study was based on the National Key Research and Development Program of "National Precision Medicine Cohort of Esophageal Cancer" and "Study on Identification and Prevention of High-risk Populations of Gastrointestinal Malignancies (Esophageal cancer, Gastric cancer and Colorectal cancer)" . From January 2017 to August 2018, 212 villages or communities with a high incidence of esophageal cancer or gastric cancer were selected from 12 regions in 6 provinces. A total of 35 910 residents aged between 40 and 69 years old who met the inclusion criteria and signed the informed consent were investigated and enrolled in this study. The use of NSAIDs, demographic characteristics, health-related habits, height, weight, and blood pressure were collected by the questionnaire and physical examination. The status of main NSAIDs (aspirin, acetaminophen and ibuprofen) use with the difference varying in genders, age groups and regions were analyzed by using χ(2) test and Cochran-Armitage trend analysis method. Results: Of 35 910 subjects, the mean age was (54.6±7.1) years old and males accounted for 43.42% (15 591). The overall prevalence of NSAIDs intake was 4.56% (1 638), but it significantly varied in different provinces (P<0.001). The overall prevalence of NSAIDs intake was 4.87% (1 750) in females, which was significantly higher than that in males 4.24% (1 524) (P<0.001). The prevalence of NSAIDs intake increased with age (P for trend <0.001). As the frequency of NSAIDs intake increased, the incidence of gastrointestinal symptoms, gastrointestinal ulcers and black stools increased (P for trend <0.05 for all). Conclusion: The use of NSAIDs is prevalent in some areas with a high incidence of upper gastrointestinal cancer in China. The increased use of NSAIDs may lead to more adverse effects related to the gastrointestinal tract.

3.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(11): 1104-1109, 2019 Nov 06.
Artigo em Chinês | MEDLINE | ID: mdl-31683395

RESUMO

Objective: To analyze the related factors of esophageal squamous cell carcinoma and precancerous lesions among residents aged 40-69 years old in rural areas of Shandong Province. Methods: In October 2018, 300 villages in 13 counties of the Shandong upper gastrointestinal cancerearly diagnosis and treatment projectin 2017 were selected as research areas, and 30 400 residents aged 40-69 were recruited in this study. The demographic characteristics, health status and lifestyle information were collected through the questionnaire survey, and endoscope iodine staining and indicative biopsy methods were used for cancer screening among eligible people.The multivariate logistic regression model was used to analyze the risk factors for esophageal cancer and precancerous lesions. Results: The subjects in this study were (56.42±7.24) years old, including 13 193 males (43.40%).There were 936 cases of esophageal cancer and precancerous lesions (3.08%), including 521 males and 415 females.Compared with women, 40-49 years old, high level education, drinking tap water, regular intake of meat, eggs and milk, and family average annual income more than 30 000 RMB, men (OR=1.90, 95%CI: 1.65-2.19), 60-69 years old (OR=5.28, 95%CI: 4.11-7.30), primary school education or below (OR=1.50, 95%CI: 1.20-1.89), drinking groundwater (OR=1.71, 95%CI: 1.38-2.13), never eating meat, eggs and milk (OR=1.48, 95%CI: 1.22-1.80), and family average annual income less than 30 000 RMB (OR=1.41, 95%CI: 1.16-1.70) would increase the risk of esophageal cancer and precancerous lesions. Conclusion: The gender, age, educational level, annual household income, drinking water source, the frequency of eating meat, egg and milk were related to the occurrence of esophageal cancer and precancerous lesions among 40-69 years old residents in rural areas of Shandong Province.

4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(11): 1188-1192, 2019 Nov 06.
Artigo em Chinês | MEDLINE | ID: mdl-31683412

RESUMO

Statistical graph, as a useful tool of data visualization, plays a crucial role in the statistical description. This paper mainly introduces several common statistical charts, their characteristics, practical examples and so on for frequency distribution, including qualitative variable and quantitative variable, in order to provide application reference for readers.

5.
Opt Express ; 27(20): A1458-A1466, 2019 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-31684498

RESUMO

Carrier transport in AlGaN-based deep ultraviolet (DUV) light emitting diodes (LEDs) with the wavelength of 273 nm has been investigated by introducing polarization modulated electron blocking layer (EBL) that adopts an Al composition and thickness graded multiple quantum barriers (MQB) structure. The experimental result shows that the maximum light output power and external quantum efficiency for the proposed structure at the current of 250 mA are 9.6 mW and 1.03% respectively, severally increasing by 405% and 249% compared to traditional one, meanwhile, the efficiency droop at 250 mA is also dramatically reduced from 42.2% to 16.6%. Further simulation analysis indicates that this graded MQB-EBL enhances the potential barrier height for electrons and meanwhile reduces that for holes, hence effectively suppresses the electron leakage, and at the same time significantly improves the hole injection efficiency. As a result, the whole performance of the LED with the proposed MQB-EBL is dramatically improved.

6.
Ann Biomed Eng ; 2019 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-31686312

RESUMO

The Wnt, Hedgehog, and Notch signaling pathways play a crucial role in early development and the maintenance of adult tissues. When dysregulated, these developmental signaling pathways can drive the formation and progression of cancer by facilitating cell survival, proliferation, and stem-like behavior. While this makes these pathways promising targets for therapeutic intervention, their pharmacological inhibition has been challenging due to the substantial complexity that exists within each pathway and the complicated crosstalk that occurs between the pathways. Recently, several small molecule inhibitors, ribonucleic acid (RNA) molecules, and antagonistic antibodies have been developed that can suppress these signaling pathways in vitro, but many of them face systemic delivery challenges. Nanoparticle-based delivery vehicles can overcome these challenges to enhance the performance and anti-cancer effects of these therapeutic molecules. This review summarizes the mechanisms by which the Wnt, Hedgehog, and Notch signaling pathways contribute to cancer growth, and discusses various nanoparticle formulations that have been developed to deliver small molecules, RNAs, and antibodies to cancer cells to inhibit these signaling pathways and halt tumor progression. This review also outlines some of the challenges that these nanocarriers must overcome to achieve therapeutic efficacy and clinical translation.

7.
J Anim Sci ; 2019 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-31679021

RESUMO

The object of this study was to establish a new method to predict the content of DE and ME in sorghum fed to growing pigs by using near-infrared reflectance spectroscopy (NIRS). A total of 33 sorghum samples from all over China were used in this study. The samples were scanned for their spectra in the range of 12,000-4,000 cm-1. Based on principal components analysis of the spectra, the samples were split into a calibration set (n = 24) and a validation set (n = 9) according to the ratio of 3: 1. With animal experiment values as calibration reference, the calibration models of DE and ME were established using partial least squares regression algorithm. Different spectral pretreatments were applied on the spectra to reduce the noise level. The best wavenumber ranges were also investigated. Results showed that DE and ME content in sorghum fed to growing pigs ranged from 14.57-16.70 MJ/kg DM and 14.31-16.35 MJ/kg DM, respectively. The optimal spectral preprocessing method for DE and ME was the combination of first derivative and multiplicative scatter correction. The most informative near-infrared spectral regions were 9,403.9-6,094.4 cm-1 and 4,605.5-4,242.9 cm-1 for DE and ME. The best performance for DE and ME calibration models was the coefficient of determination of calibration (R2c) of 0.94 and 0.93, coefficient of determination of cross-external validation (R2cv) of 0.88 and 0.86, residual predictive deviation of cross-external validation (RPDcv) of 2.86 and 2.64, coefficient of determination of external validation (R2v) of 0.90 and 0.81, and residual predictive deviation of external validation (RPDv) of 3.15 and 2.35, respectively. There were no significant differences between the measured and NIRS predicted values for DE and ME (P = 0.895 for DE and P = 0.644 for ME). As the number of calibration samples increased from 24 to 33, the calibration performance of DE and ME models was improved, indicated by increased R2c, R2cv, and RPDcv values. In conclusion, NIRS quantitative models of the available energy in sorghum were established in this study. The results demonstrated that the content of DE and ME in sorghum could be predicted with relatively high accuracy based on NIRS and NIRS showed the superiority of speediness and practicality when compared with previous research methods including animal experiments, regression equations, and computer-controlled simulated digestion system.

8.
Zhonghua Yi Xue Za Zhi ; 99(40): 3145-3151, 2019 Oct 29.
Artigo em Chinês | MEDLINE | ID: mdl-31694105

RESUMO

Objective: To analyze the distribution of gene mutations in newly diagnosed acute myeloid leukemia (AML) patients, based on next generation sequencing technology (NGS) and to evaluate their value in AML risk stratification. Methods: The study analyzed 453 newly diagnosed AML(excluded acute promyelocytic leukemia, APL) patients from seven hospitals in Shanghai, from January 1st 2014 to December 31th 2017. RNA and DNA were extracted from pretreatment bone marrow mononuclear cells and targeted sequencing of AML genes were performed. The data of different groups was compared. Results: A total of 453 newly diagnosed AML patients were enrolled in the study, including 247 males and 206 females with a median age of 49.5 (range,11-85) years. A total of 540 mutations/fusion genes were detected in 289 patients, 29.1% (132/259) of whom with two or more mutations/fusion genes. In all patients, NPM1 was the most common mutation(12.8%), followed by ETO and TET2 mutation (11.92% and 11.04%, respectively) . And WT1 over-expression accounted for 10.6%. Patients over the age of 50 were with a higher frequency of mutations associated with epigenetic modification, 11.93% for ASXL1, 13.99% for DMNT3A, 6.58% for IDH1/IDH2, and 13.17% for TET2. The frequency of DMNT3A mutations was three times higher than that of patients under 50 years of age (P=0.017). In this study, a relatively low proportion of genetic mutations was observed in low-risk karyotype group. In the medium-risk karyotype group, the relatively high mutation frequencies were observed in NPM1, TET2, FLT3-ITD, DNMT3A, ASXL1, and CEBPA genes. In the poor-risk karyotype group, the mutation frequencies of ASXL1, TET2, DNMT3A and PHF6 genes were more than 10%, especially ASXL1 and PHF6 mutation frequencies were significantly higher than other molecular risk stratification groups (P<0.05). Of the 254 patients (56%) with normal karyotype AML (NK-AML), 56 patients were detected to have gene mutations about epigenetic modification. The median OS of this group was worse than that of patients without related mutations, while the median LFS had no significant difference. In patients with NK-AML older than 50 years, the OS and LFS of patients with epigenetic modification related gene mutations was 12 months and 10 months, versus 18 months and 12 months of patients without mutations. Conclusions: The gene mutations frequencies in AML patients with different age and molecular risk stratification groups are different. Epigenetics gene mutation frequencies, such as DNMT3A, ASXL1, IDH1/IDH2 and TET2,are higher in patients older than 50 years. A shorter OS can be observed in older patients(>50 years) with epigenetics gene mutation.

9.
Zhonghua Yi Xue Za Zhi ; 99(41): 3227-3231, 2019 Nov 05.
Artigo em Chinês | MEDLINE | ID: mdl-31694117

RESUMO

Objective: To measure the levels of anti-interferon (IFN) -α2 antibody (IFN-α2-Ab) and anti-IFN-ω antibody(IFN-ω-Ab) and investigate their potential roles in patients with myasthenia gravis (MG). Methods: Radioimmunoprecipitationassay (RIPA) based on (125)I-labelled IFN-α2, -ω, acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) were used to detect anti-IFN-α2-Ab, anti-IFN-ω-Ab, anti-AChR-Ab and anti-MuSK-Ab respectively in MG patients from Tianjin Medical University General Hospital, during the year of 2013. Relationship between IFN-α2-Ab and clinical characteristics in patients with MG were analyzed. Results: With the RIPA, anti-IFN-α2-Ab was positive in 11 (22%) patients with MG, among whom, 8 were thymoma associated MG (TAMG) and 3 were late onset MG (LOMG). The double positive one was among the LOMG who was a 76-year-old ocular MG patient. Serum anti-IFN-α2-Ab levels in different subgroups of MG had no significant difference (P>0.05). MG patients with anti-IFN-α2-Ab complicated with less other autoimmune disease. Serum anti-IFN-α2-Ab levels negatively correlated with QMG score in TAMG. Conclusions: MG patients with anti-IFN-α2-Ab complicate with less other autoimmune disease. The higher serum IFN-α2-Ab levels in TAMG, the slighter symptoms present.

10.
Zhonghua Yi Xue Za Zhi ; 99(41): 3260-3265, 2019 Nov 05.
Artigo em Chinês | MEDLINE | ID: mdl-31694123

RESUMO

Objective: To compare the dosimetric parameters of three different modern radiation techniques in radical radiotherapy for esophageal cancer. Methods: A total of 25 patients with pathologically confirmed esophageal squamous cell carcinoma in Zhejiang Cancer Hospital were included from September 2015 to May 2016 and three radiation treatment plans for helical tomotherapy (TOMO), intensity-modulated radiotherapy (IMRT) and volumetric-modulated arc therapy (VMAT) were designed respectively for each patient. Study patients included 24 males and 1 female,aged from 47 to 82 years old, with a median age of 63 years old. All patients received the total prescription dose of 60 Gy in 30 fractions to the planning target volume (PTV). Conformity index (CI), heterogeneity index (HI), D(1), D(2), D(50), D(95), D(98), D(9)9 and V(95), V(100), V(105) of PTV was calculated. The mean dose, V(5), V(10), V(20), V(30), V(40) and V(50) of total lung, heart, and maximum dose (D(max)) to spinal cord were recorded as well. Results: Compared with TOMO and IMRT, VMAT showed higher CI (0.81±0.08) and lower HI (0.10±0.05), and CI was worse in IMRT (0.77±0.05) than TOMO (0.79±0.04) (t=2.604, P=0.016) and VMAT (t=2.817, P=0.010). There was no significant difference in HI among three radiation techniques. The dosimetric parameters of TOMO in normal lung were significantly better than those of VMAT and IMRT, especially in V(20) and V(30). The D(max) of spinal cord (38.24±3.72) Gy in TOMO was significantly lower than that of the VMAT ((39.88±3.27)Gy, t=-3.173, P=0.004) and IMRT plan ((41.09±3.18)Gy, t=-5.559, P=0.000). Subgroup analysis showed that VMAT was superior to TOMO and IMRT in CI and HI, especially HI (0.09±0.01) significantly better than TOMO (0.12±0.03, t=3.024, P=0.029) and IMRT (0.12±0.02, t=-3.800, P=0.013) for patients with cervical and upper thoracic esophageal cancer. TOMO and VMAT were significantly better than IMRT in MLD, lung V(20) and V(30) (all P<0.05). TOMO (38.46±2.15)Gy was significantly superior to VMAT ((41.02±1.28)Gy,t=-2.701, P=0.043) and IMRT ((41.76±1.11)Gy, t=-3.111, P=0.027) at D(max) of the spinal cord. For the patients with middle and lower thoracic esophageal cancer, TOMO, VMAT and IMRT had no statistically significant differences in CI and HI. IMRT was inferior to TOMO and VMAT in MLD, lung V(10), V(20), and V(30) (all P<0.05). TOMO (38.17±4.14) Gy was significantly superior to VMAT ((39.52±3.64)Gy,t=-2.219, P=0.040) and IMRT ((40.87±3.59)Gy,t=-4.528, P=0.000) at D(max) of the spinal cord. Conclusions: The VMAT plan is better than TOMO and IMRT in terms of the conformal degree and dose uniformity of the target volume.TOMO seems significantly better than VMAT and IMRT in protecting normal tissue.

11.
Eur Rev Med Pharmacol Sci ; 23(20): 8751-8760, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31696461

RESUMO

OBJECTIVE: The functions of lncRNAs have been verified to be important biomarkers and regulators for diagnosis and treatment of human diseases. In osteosarcoma (OS), emerging evidence determined that lncRNA was associated with cell progression. However, due to the high incidence and recurrence rate of osteosarcoma, it is important to find an effective treatment for osteosarcoma. PATIENTS AND METHODS: QRT-PCR was used to detect the expression of ADPGK-AS1 and miR-542-3p in tissues and cells. Western blot was applied to measure the protein expression of CDK4, Cyclin D1, Bcl-2, Bax, Cleaved caspase-3, MMP-2, and MMP-9. MTT assay and flow cytometry were used to measure cell proliferation and apoptosis. Cell invasion and migration were determined using the transwell assay. Moreover, luciferase reporter assay was used to ensure the relation between ADPGK-AS1 and miR-542-3p. RESULTS: LncRNA ADPGK-AS1 expression was induced while miR-542-3p expression was reduced in OS tissues and cells. Functional experiments showed that inhibition of ADPGK-AS1 could decrease cell proliferation, migration, and invasion, as well as promoted cell apoptosis in OS cells. Also, miR-542-3p has been verified to be a target miRNA of ADPGK-AS1 and miR-542-3p could reverse the effects of ADPGK-AS1 on cell proliferation, apoptosis, migration, and invasion in OS cells. CONCLUSIONS: ADPGK-AS1 affected cell proliferation, invasion, migration, and apoptosis via targeting miR-542-3p in OS, providing a theoretical basis and a new therapeutic target for the diagnosis and treatment of OS.

12.
Eur Rev Med Pharmacol Sci ; 23(20): 8779-8787, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31696464

RESUMO

OBJECTIVE: This work aimed to study the mechanism of lncRNATCF7 upregulating DNMT1 mediated by HPV-18 E6 and regulating the biological behavior of cervical cancer cells by inhibiting miR-155. PATIENTS AND METHODS: HPV-16 E6 enhanced DNMT1 expression in cervical cancer cells, which was detected by Western blotting. The expression of miR-155 in cervical cancer was detected by qPCR, the interaction between TCF-7 and miR-155 by Dual-luciferase reporter gene. The changes in invasion ability of cervical cancer cells and the effect of miR-155 on the invasion ability of cervical cancer cells after inhibiting TCF-7 were detected by the transwell invasion assay, while changes in migration ability of cervical cancer cells and the effect of miR-155 on migration ability of cervical cancer cells after inhibiting TCF-7 were observed by the scratch assay. The effect of inhibiting TCF-7 on the tumor size and volume of cervical cancer was detected by the subcutaneous tumor formation in nude mice. RESULTS: E6 expression was significantly inhibited by E6 siRNA. The knockdown of endogenous HPV-16 E6 markedly inhibited the expression of DNMT1; TCF-7 specifically bound to the 3' UTR of miR-155; inhibition of TCF-7 can inhibit invasion and migration of cervical cancer cells; enhanced miR-155 after the inhibition of TCF-7 can promote the invasion and migration of cervical cancer cells; compared with NC group, the tumor volume and weight of TCF-7-siRNA group tumor-bearing was significantly reduced. CONCLUSIONS: TCF-7 plays an important role in the development of cervical cancer. TCF-7 can target miR-155 to regulate the invasion and migration of cervical cancer cells.

13.
Eur Cell Mater ; 38: 228-245, 2019 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-31697398

RESUMO

Fracture healing is a well-orchestrated and coordinated process and begins with the inflammatory stage involving the infiltration of immune cells and the release of cytokines, including tumour necrosis factor-alpha (TNF-α), interleukin-6 (IL-6) and interleukin-10 (IL-10). Low-magnitude high-frequency vibration (LMHFV) stimulation is effective in promoting fracture healing. The study hypothesis was that the innate immune response was impaired in osteoporotic fracture and LMHFV could positively modulate it. 9-month-old ovariectomy (OVX)-induced osteoporotic rats were randomised into sham (SHAM), OVX control (OVX), OVX-vibration (OVX-VT) or OVX vibration plus administration of COX-2 specific non-steroid anti-inflammatory drugs (OVX-VT-NSAID). LMHFV (35 Hz, 0.3 g) was given 20 min/d and 5 d/week to the treatment groups. Healing and innate immune response were evaluated by weekly radiographs, endpoint micro-computed tomography (µCT), enzyme-linked immunosorbent assay (ELISA) and histomorphometry at weeks 1, 2, 4 and 8 post-treatment. Results showed that OVX slightly elevated systemic inflammation but impaired the innate immune response locally at the fracture site, with significantly lower expressions of TNF-α and IL-6 but higher IL-10 expression during the early stage of healing. LMHFV was effective in accelerating the delayed fracture healing in OVX bones by partly restoring the impaired innate immune response at the fracture site, accompanied by promoted progression of macrophage polarisation from M1 (pro-inflammatory) to M2 (anti-inflammatory) phenotype. In conclusion, vibration treatment could positively modulate the impaired innate immune response and promote macrophage polarisation in osteoporotic-fracture healing.

14.
Reproduction ; 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31705793

RESUMO

The invasion of maternal decidua by extravillous trophoblast (EVT) is essential for the establishment and maintenance of pregnancy, and abnormal trophoblast invasion could lead to placenta-associated pathologies including early pregnancy loss and preeclampsia. SEC5, a component of the exocyst complex, plays important roles in cell survival and migration, but its role in early pregnancy has not been reported. Thus, the present study was performed to explore the functions of SEC5 in trophoblast cells. The results showed that SEC5 expression in human placental villi at first trimester was significantly higher than it was at the third trimester, and it was abundently localized in the cytotrophoblast (CTB) and the trophoblastic column. SEC5 knockdown was accompanied by reduced migration and invasion in HTR-8/SVneo cells. In addition, the expression and plasma membrane distribution of integrin ß1 was also decreased. Furthermore, shRNA-mediated knockdown of SEC5 inhibited the outgrowth of first trimester placental explants. SEC5 and InsP3R were colocalized in the cytoplasm of HTR-8/SVneo cells, and the cell-permeant calcium chelator BAPTA-AM could significantly inhibit HTR-8/SVneo cell invasion. The Ca2+ imaging results showed that the 10% fetal bovine serum-stimulated cytosolic calcium concentration ([Ca2+]c) was not only reduced by downregulated SEC5 but also was blocked by the InsP3R inhibitor. Furthermore, either the [Ca2+]c was buffered by BAPTA-AM or the knockdown of SEC5 disrupted HTR-8/SVneo cell F-actin stress fibers and caused cytoskeleton derangement. Taken together, our results suggest that SEC5 might be involved in regulating trophoblast cell migration and invasion through the integrin/Ca2+ signal pathway to induce cytoskeletal rearrangement.

15.
Zhonghua Er Ke Za Zhi ; 57(11): 837-843, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665837

RESUMO

Objective: To summarize the clinical features of leukoencephalopathy with vanishing white matter disease (VWM) in children. Methods: A retrospective cohort study was performed on 54 genetically diagnosed VWM patients in Peking University First Hospital from January 2007 to March 2019. Paper registration form and electronic medical record system were used to collect the data,and the children were divided into five groups according to the age of disease onset:<1 year, 1-<2 years, 2-<4 years, 4-<8 years and 8-<18 years respectively. The progression of motor function, episodic aggravation, epileptic seizures, survival time, brain magnetic resonance imaging (MRI) and genotype features were analyzed and compared. Non-parametric test, χ(2) test or Fisher's exact test were used for comparison among groups; Kaplan-Meier survival curve was adopted to delineate the survival status of the children. Results: Fifty-four VWM patients were included in the study, including 34 males and 20 females.The age of disease onset was 2 years and 8 months (ranged from 6 months to 9 years and 7 months). Onset age was less than 1 year in 5 cases; onset age was 1-<2 years in 12 cases; onset age was 2-<4 years in 25 cases; onset age was 4-<8 years, in 10 cases; onset age was 8-<18 years in 2 cases; 94% (51/54) of patients had complaint of motor regression at the first visit; 87% (47/54) of patients suffered from episodic aggravation. Episodic seizures occurred in 43% (23/54) patients. In survivors with disease durations of 1-3 years, in 38% (9/24) patients the disease was classified as grades Ⅳ-Ⅴ by gross motor function classification system (GMFCS). For the onset age 1-<2 years group, 1 patient was classified as GMFCS Ⅳ among 3 survivors with disease durations of 1-3 years. As for the 2-<4 years group, 6 patients were classified as GMFCS Ⅳ-Ⅴ among 15 patients with disease durations of 1-3 years, whereas 1 patient was classified as GMFCS Ⅳ-Ⅴ among 4 patients with disease durations of 1-3 years in the 4-<8 years group. Lesions, liquefaction and diffusion restriction in brain MRI were compared among different groups, and it was revealed that the earlier the age of disease onset was, the more likely the subcortical white matter (frontal lobe P<0.01,temporal and parieto-occipital lobe both P=0.002), internal capsule (anterior limb P<0.01, posterior limb P=0.00) and brain stem (midbrain P=0.001, pons P<0.01) were to be involved. In addition, internal capsule (anterior limb P=0.002, posterior limb P=0.005) and brain stem (midbrain P=0.001, pons P=0.003) showed more diffuse restricted diffusion. Moreover, the subcortical white matter (frontal and parieto-occipital lobe both P<0.01, temporal lobe P=0.005) showed earlier rarefaction. The 1-year and 2-year survival rates of the overall patients were 81% and 75% respectively, while the 15-year survival rate was 45%. EIF2B5 gene variation was the most common, which accounts for 43% (23/54), followed by EIF2B3 (22%, 12/54). Conclusions: The majority of VWM patients complained of motor regression at the first visit, episodic aggravation and epileptic seizures are common in the course. Earlier age at onset is associated with more rapid clinical progression, shorter survival time as well as more extensive lesions, liquefaction and diffusion restriction in brain MRI. The most common variant gene is EIF2B5, followed by EIF2B3.

16.
Zhonghua Er Ke Za Zhi ; 57(11): 844-851, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665838

RESUMO

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.

19.
Artigo em Inglês | MEDLINE | ID: mdl-31667908

RESUMO

Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis that can be challenging to diagnose and treat. Skin ulcers of other etiologies are often erroneously diagnosed as PG, possibly due to heterogeneity in presentation, lack of definitive diagnostic testing, and unclear etiology. To address this issue, an international consensus criteria for diagnosis of classic ulcerative PG was established, but currently, there are no such criteria for peristomal PG (PPG), a condition affecting approximately 1% of stoma patients. Although the diagnostic accuracy of PPG is currently unknown, it is concerning that only 22-67% of PPG patients respond positively to first-line immunosuppressive therapy.2 These findings lead us to believe that ulcers of other etiologies are commonly misdiagnosed as PPG.

20.
Clin Transl Oncol ; 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31677055

RESUMO

PURPOSE: Vitexin, an inhibitor of hypoxia-inducible factor (HIF)-1α, has anti-tumor effect. However, whether it can enhance the radiotherapy sensitization of hyperbaric oxygen (HBO) on glioma is unclear. This study aimed to investigate the effect of vitexin. METHODS: The nude mice with paw-transplanted glioma were divided into four groups: control group, HBO + radiation group, HBO + vitexin group, and HBO + vitexin + radiation group. The mice of last two groups were daily given vitexin 75 mg/kg by intraperitoneal injection. 30 min after administration of vitexin, the HBO-treated mice were daily placed in HBO chamber for 60 min. The radiation-treated mice were given local tumor irradiation once every week during the HBO treatment, and the dose of irradiation was 10 Gy/time. The experimental treatment lasted for 21 days. RESULTS: Compared with the HBO + radiation group, the tumor volume, tumor weight, and tumor weight coefficient in the HBO + vitexin + radiation group were lower (p < 0.05). Importantly, the contents of reduced glutathione and glutathione peroxidase as well as expressions of HIF-1α, vascular endothelial growth factor, glucose transporter (GLUT)-1, and GLUT-3 proteins in tumor tissues were also lower in the HBO + vitexin + radiation group than in the HBO + radiation group (p < 0.01). CONCLUSIONS: Vitexin can cooperate with HBO to sensitize the glioma radiotherapy, and its mechanisms may be correlated to the inhibition of HIF-1α protein expression and subsequent decrements of its downstream protein expressions, which finally cause the reduction of antioxidant capacity.

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