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1.
Nanotechnology ; 31(4): 045601, 2020 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-31578007

RESUMO

High entropy alloy (HEA) based thin films have been attracting increasing research interest recently because of their unique mechanical/physical properties. However, the physical mechanisms that govern the formation of the atomic structure in HEA thin films are not clear yet. In this work, we synthesized a series of FeCoNiNb0.5 HEA thin films via direct current magnetron sputtering with carefully controlled processing parameters. Through a systematical study by x-ray diffraction and transmission electron microscopy, we demonstrated that the atomic structure of the HEA thin films of the same composition could exhibit different nanostructures and metastable phases, including amorphous and metastable crystalline phases. In addition, we also developed a physical model which sheds quantitative insights into the thermodynamics and kinetics for the phase selection in our HEA thin films. Our current work could pave a way for a controlled synthesis of a variety of nanostructured chemically complex alloy thin films for future structural and functional applications.

2.
Zhonghua Er Ke Za Zhi ; 57(11): 830-836, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665836

RESUMO

Objective: To summarize the clinical and genetic features of ß-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions: The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.


Assuntos
Proteínas de Transporte/genética , Epilepsia/genética , Doenças Neurodegenerativas/genética , China , Eletroencefalografia , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Doenças Neurodegenerativas/diagnóstico por imagem , Estudos Retrospectivos , Convulsões
3.
Zhonghua Er Ke Za Zhi ; 57(11): 857-862, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665840

RESUMO

Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized. Results: Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate. Conclusions: The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.


Assuntos
Caderinas/genética , Epilepsias Mioclônicas/genética , Epilepsia/genética , Convulsões/genética , Adolescente , Transtorno do Espectro Autista , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Mutação , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
6.
Eur Rev Med Pharmacol Sci ; 23(20): 8806-8812, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31696467

RESUMO

OBJECTIVE: Increasing evidence indicated that microRNAs (miRNAs) are crucial regulators for cancer development. Bladder cancer (BCa) is a major threat to human health. The aim of this study was to analyze the roles of miR-652-3p in BCa, and to explore the associated mechanisms. MATERIALS AND METHODS: MiR-652-3p expression in BCa cell lines was explored using Real Time-quantitative Polymerase Chain Reaction (RT-qPCR) method. MiR-652-3p expression level in BCa tissues was explored at StarBase. Cell Counting Kit-8 (CCK-8) assay, wound-healing assay, and transwell invasion assay were conducted to investigate the biological roles of miR-652-3p. The underlying mechanisms of miR-652-3p in NSCLC were investigated using luciferase activity reporter assay and rescue experiments. RESULTS: We showed that miR-652-3p expression level was upregulated in both BCa tissues and cell lines. The knockdown of miR-652-3p significantly inhibited BCa cell proliferation, migration, and invasion in vitro. Moreover, we showed that potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3) was a functional target for miR-652-3p. Besides, the expression of KCNN3 in BCa tissues was negatively correlated with miR-652-3p. CONCLUSIONS: Collectively, these results showed that miR-652-3p could promote BCa cell proliferation, migration, and invasion via directly regulating KCNN3, which may provide a novel therapeutic target for BCa treatment.

7.
Eur Rev Med Pharmacol Sci ; 23(20): 9000-9008, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31696488

RESUMO

OBJECTIVE: The aim of this study was to elucidate whether the knockdown of microRNA-106-3p (miR-106-3p) could mediate the nerve regeneration and functional recovery after the spinal cord injury (SCI) and its potential mechanism. MATERIALS AND METHODS: Microglia were extracted from the cerebral cortex of the neonatal rats and cultured in vitro. Subsequently, biomarkers of M1-type and M2-type in microglia transfected with miR-106-3p inhibitor were measured. Furthermore, in vivo SCI model in rats was successfully constructed, and SCI rats were intrathecally injected with miR-106-3p inhibitor or negative control. The expressions of the pro-inflammatory factors in the SCI rats or controls were detected by the enzyme-linked immunosorbent assay (ELISA). The glial scar marker and extracellular matrix were visualized by Western blotting and immunofluorescence, respectively. To observe the nerve function in rats, the movement evaluation was conducted using Basso-Beattie-Bresnahan (BBB) locomotor rating scale. RESULTS: In the inflammatory microglia, miR-106-3p was markedly up-regulated. Western blotting exhibited the downregulation of M1-type cells and the upregulation of M2-type cells after silencing miR-106-3p. In SCI rats, we discovered that the miR-106-3p level in the injured spinal cord was up-regulated within one week following injury. Meanwhile, the levels of the pro-inflammatory factors were significantly reduced in SCI rats with the miR-106-3p knockdown. At 7 days after the injury, the area of the astrocyte scar in the injured spinal cord was remarkably reduced by in vivo knockdown of miR-106-3p. Moreover, the extracellular matrix components secreted in the scar were also significantly inhibited. However, the glial secretion of the neurotrophic factors relatively increased in the SCI rats with the miR-106-3p knockdown. Neurological function recovery was pronounced in SCI rats with the miR-106-3p knockdown relative to controls. CONCLUSIONS: The silence of miR-106-3p promotes the recovery of the locomotor function and protects the environment of the neurotization by inactivating inflammatory microglia and reducing the scar formation following SCI.

8.
Zhonghua Wai Ke Za Zhi ; 57(11): 818-823, 2019 Nov 01.
Artigo em Chinês | MEDLINE | ID: mdl-31694129

RESUMO

Objective: To investigate the mid-term efficacy of extracapsular arthroscopic surgery for refractory tennis elbow and explore prognostic factors. Methods: A retrospective study of 38 patients suffered from refractory tennis elbow and underwent extracapsular arthroscopic surgery performed by the same group of doctors during March 2012 to January 2016 at Institute of Sports Medicine, Peking University Third Hospital. There were 15 males and 23 females with age of 44.2 years(range: 32-59 years). Fifteen cases on the left and 23 cases on the right. Visual analogue scale(VAS), Mayo elbow performance score and Disability of Army, Shoulder and Hand (DASH) score were collected preoperatively and postoperatively, and compared by paired-t test. Independent sample t test, χ(2) test, multivariate logistic regression were used to analyze the relationship between scores and various potential influencing factors. Results: All 38 patients were followed up for 24 months. There was no complication such as infection or nerve injury recorded. VAS decreased from 7.0(1.2) (M(Q(R))) preoperative to 0(1) (Z=-5.40, P=0.00), Mayo increased from 55(26) to 100(0) (Z=-5.38, P=0.00),DASH decreased from 56.7(27.3) to 0.8(5.8)(Z=-5.37,P=0.00). The Mayo elbow performance score was excellent in 36 cases (94.7%) and good in 2 cases (5.3%). Women was significantly associated with poor prognosis. Conclusions: The mid-term effect of extracapsular arthroscopic treatment of refractory tennis elbow is satisfactory with few postoperative complications. Women was associated with poor prognosis.


Assuntos
Artroscopia , Cotovelo de Tenista/cirurgia , Adulto , Cotovelo/lesões , Cotovelo/cirurgia , Articulação do Cotovelo/lesões , Articulação do Cotovelo/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Amplitude de Movimento Articular , Estudos Retrospectivos , Resultado do Tratamento
9.
Zhonghua Yi Xue Za Zhi ; 99(42): 3328-3334, 2019 Nov 12.
Artigo em Chinês | MEDLINE | ID: mdl-31715670

RESUMO

Objective: The authors aim to provide genetic counselling and prenatal gene diagnosis to the families with osteogenesis imperfecta(OI), based on the identification of pathogenetic mutations in large cohort genetic testing. Methods: DNA was extracted from the peripheral blood of parents of the fetuses, and from the villi tissue, amniotic fluid or cord blood of the fetuses using a standard sodium dodecyl sulfate-proteinase K-phenol/chloroform extraction method. PCR combined with Sanger DNA sequencing was performed to validate the pathogenic mutations of 200 fetuses at risk of OI and their parents from 158 families. Allelic analysis of microsatellite markers was applied to exclude the false positive caused by maternal DNA contamination, when both the fetus and the mother harbored the same pathogenic genotype. Results: A total of 83 affected fetuses (83/200, 41.5%) and 12 (12/200, 6.0%) recessive carriers were identified among the 200 fetuses. The 83 affected fetuses included 78 heterozygotes (45 of COL1A1, 32 of COL1A2, one of IFITM5), and 5 compound heterozygotes or homozygotes of recessive OI (two of FKBP10, one of SEC24D, one of WNT1 and one of CRTAP); The 12 recessive carriers included 7 of WNT1, 4 of SERPINF1 and one of SERPINH1. Maternal DNA contamination was excluded from the genomic DNA samples of OI fetuses when their mother with the same affected genotypes. Conclusion: In this study, the authors used an optimized gene diagnosis system of OI to perform prenatal genetic diagnosis to 200 fetuses at high risk of OI, and provided precisely genetic counselling to the OI families.


Assuntos
Osteogênese Imperfeita , Colágeno Tipo I , Feminino , Feto , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Proteínas de Ligação a Tacrolimo
10.
Opt Express ; 27(19): 26967-26978, 2019 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-31674566

RESUMO

Lasing-based sensors have several advantages over fluorescent devices, specifically related to the high light intensity and narrow mode linewidth that can improve the speed and accuracy of the sensor performance. In this work, a microcapillary-based lasing sensor is demonstrated, in which the lasing wavelengths are sensitive to the surface binding of specific materials. In order to achieve this, we utilized lasing into the "star" and "triangle" modes of a conventional microcapillary and tracked the mode positions after the deposition of a polyelectrolyte tri-layer and the subsequent amide binding of carboxy-functionalized polystyrene microspheres. While the lasing mode spectrum becomes increasingly complicated by the addition of the surface layers, careful mode selection can be used to monitor the layer-by-layer surface binding in a mechanically and optically robust device. For polystyrene microspheres, the detection limits were 9.75 nM based upon the lasing mode shift, which compares favorably with fluorescence-based devices. The methods presented in this work could readily be extended to other surface binding schemes and lasing wavelengths, showing that capillary microlasers could be used for many potential applications that capitalize on stable lasing-based detection methods.

11.
Zhonghua Yi Xue Za Zhi ; 99(41): 3266-3272, 2019 Nov 05.
Artigo em Chinês | MEDLINE | ID: mdl-31694124

RESUMO

Objective: To observe the difference of brain activity in patients with diarrhea-type irritable bowel syndrome (IBS-D) treated with pinaverium bromide (PB) combined with flupentixol-melitracen (FM), and to explore the mechanism of efficacy of combined with anxiolytic/antidepressant drugs in IBS-D patients at the central level, using resting-state functional magnetic resonance imaging (rs-fMRI). Methods: Forty-eight patients with IBS-D, including 28 males, 20 females, mean age 22-48 (33±7) years, were selected from the Affiliated Hospital of Hangzhou Normal University from October 2015 to October 2018.All patients with IBS-D underwent rs-fMRI scans before and after receiving either PB (basic treatment group, n=16), PB combined with FM (combination therapy group, n=16), or no medication (no treatment group, n=16). Rs-fMRI regional homogeneity (ReHo) parameter among the three groups of patients were compared using One-way ANOVA analysis and post analysis.Partial correlation and mediation analyses were performed on ReHo values and the improvement of symptoms scores (gastrointestinal symptom rating scale(GSRS) and hospital anxiety/depression scale (HAD)) in the two medicated groups. Results: No significant differences in ReHo values were observed among the three groups before treatment. Compared with patients on no-medication, patients receiving either PB or PB-FM showed decreased ReHo in the striatum, insular lobe, medial prefrontal cortex (MPFC) and subcallosal gyrus, and increased ReHo in the occipital cortex. In particular, the combined treatment group showed more extensive decreased ReHo in the left thalamus and left temporal pole, and increased in the left precuneus. Compared with the basic treatment group, the combined treatment group showed decreased ReHo in the right putamen, right insula, right MPFC and subcallosal gyrus, and increased ReHo in the left precuneus. In addition, the combined treatment group demonstrated a positive correlation between ReHo values in the left thalamus and the improvement of HAD score (r=0.653, P=0.011) , and a negative correlation between ReHo values in left precuneus and the improvement of GSRS and HAD score (r=-0.771, P=0.001; r=-0.716, P=0.004). ReHo values in the left precuneus were observed to mediate between gastrointestinal symptoms and anxiety-depressive symptoms in the combined treatment group. Conclusions: The efficacy of PB combined with FM is superior to PB alone in the treatment of IBS. In addition to more extensive changes in pain-related brain areas, IBS-D patients treated with anxiolytic/antidepressant also show changes in default network and brain areas related to emotional regulation, and are associated with improvement in gastrointestinal symptoms, anxiety and depression.


Assuntos
Diarreia/tratamento farmacológico , Flupentixol/uso terapêutico , Síndrome do Intestino Irritável , Imagem por Ressonância Magnética , Morfolinas/uso terapêutico , Adulto , Encéfalo , Mapeamento Encefálico , Combinação de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
12.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 31(5): 543-545, 2019 Jan 05.
Artigo em Chinês | MEDLINE | ID: mdl-31713391

RESUMO

OBJECTIVE: To understand the laboratory technicians' abilities in blood slide making and reading in 10 prefectures of Yunnan Province which have passed the provincial malaria elimination evaluation, so as to provide the evidence for improving the malaria elimination surveillance and parasite examination. METHODS: Thirty negative blood slides were randomly sampled to evaluate coating, dyeing and clean quality and reading results, and 4 laboratory technicians were sampled to evaluate their reading abilities from each prefecture level and its 2 subordinate counties (districts) respectively, and then the results were analyzed. RESULTS: A total of 869 negative blood samples were evaluated. The coincidence rate was 100%. The proportions of good coating, dyeing and clean quality were 96.09%, 91.71% and 96.89%, respectively. Totally 576 blood slides were used to evaluate the reading ability. The number of correct reading was 505, and the correct rate was 87.67%. Among them, the Plasmodium vivax correct reading rate was 87.76%, the P. falciparum correct reading rate was 87.50%, and the correct reading rate of mixed infections was 47.62%. The laboratory technicians' ability to the mixed infections was significantly lower than the ability to the others (χ2 = 37.169, P < 0.05), however, in the laboratory technicians' abilities, there was no significant difference among the center (s) for disease control and prevention, general hospitals and township hospitals (χ2 = 2.782, P > 0.05), and the prefecture, county and township levels (χ2 = 0.358, P > 0.05) . CONCLUSIONS: The 10 prefectures have passed the provincial evaluation in blood slide making and microscopic examination skill indicators requested, but the medical and public health institutions at all levels still should further improve their laboratory technicians' abilities in blood slide making and microscopic examination skills.


Assuntos
Técnicas e Procedimentos Diagnósticos , Erradicação de Doenças , Malária , China/epidemiologia , Técnicas e Procedimentos Diagnósticos/normas , Erradicação de Doenças/métodos , Humanos , Malária/sangue , Malária/diagnóstico , Malária/epidemiologia , Microscopia , Reprodutibilidade dos Testes
13.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 31(5): 546-548, 2019 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-31713392

RESUMO

OBJECTIVE: To understand and master the infection status of key parasitic diseases in Baise City from 2006 to 2015, so as to provide evidence for the development and adjustment of the control strategy for parasitic diseases. METHODS: The relevant information of the final evaluation of the key parasitic diseases in 12 counties (cities and districts) of Baise City from 2006 to 2015 was collected, and analyzed. RESULTS: During the period of 2006-2015, a total of 20 654 person-times were investigated for parasitic diseases in Baise City and 1 147 persons were infected, with an average infection rate of 5.55%. In 2006, the infection rate was the highest (28.67%, 362/1 254), while the lowest was in 2013 (2.08%, 44/2 113). The infection rate of Clonorchis sinensis was the highest, and the infection rate of Ascaris lumbricoides was the second. The infection rates of the males and females were 5.35% (631/11 795) and 5.82% (516/8 859) respectively, with no significant difference between them (χ2 = 2.175, P > 0.05). The highest infection rate existed in the 40-49 years group, the rural residents, the farmers and the crowd with the educational level of senior high middle school or above. CONCLUSIONS: The infection rate of parasitic diseases presents a decline trend overall in Baise City from 2006 to 2013, however it rebounded in 2014 and 2015. The next step is to strengthen the prevention and control of parasitic diseases by promoting health education, regular insect repellent, and fecundity management.


Assuntos
Enteropatias Parasitárias , Doenças Parasitárias , Fatores Etários , Animais , China/epidemiologia , Cidades , Feminino , Humanos , Enteropatias Parasitárias/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças Parasitárias/epidemiologia , Vigilância da População , Fatores de Risco , População Rural
15.
Phys Rev Lett ; 123(18): 181101, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31763897

RESUMO

The origins of the stellar-mass black hole mergers discovered by LIGO/Virgo are still unknown. Here we show that if migration traps develop in the accretion disks of active galactic nuclei (AGNs) and promote the mergers of their captive black holes, the majority of black holes within disks will undergo hierarchical mergers-with one of the black holes being the remnant of a previous merger. 40% of AGN-assisted mergers detected by LIGO/Virgo will include a black hole with mass ≳50M_{⊙}, the mass limit from stellar core collapse. Hierarchical mergers at traps in AGNs will exhibit black hole spins (anti)aligned with the binary's orbital axis, a distinct property from other hierarchical channels. Our results suggest, although not definitively (with odds ratio of ∼1), that LIGO's heaviest merger so far, GW170729, could have originated from this channel.

16.
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.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Leucemia Mieloide Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Adulto Jovem
17.
Zhonghua Yan Ke Za Zhi ; 55(11): 842-846, 2019 Nov 11.
Artigo em Chinês | MEDLINE | ID: mdl-31715681

RESUMO

Objective: To analyze the pathogenesis, histopathological classification and clinical features of lacrimal gland occupying lesions. Methods: This was a retrospective case series study. Clinical data of 91 patients (102 eyes) with lacrimal gland area occupying diseases who received ophthalmic surgery in the Second People's Hospital of Yunnan Province from January 2014 to November 2018 were retrospectively analyzed, including patients' age, reasons for treatment, gender, imageological examination data and pathological diagnosis results. All patients had more than one medical imaging examination results and histopathological diagnosis results. Results: Among 91 cases, 46 patients (50.5%) were male and 45 (49.5%) were female. The age distribution ranged from 1.1 years to 72 years old, with an average age of 43 years. All of benign tumors added up to 58 cases (63.7%). Pleomorphic adenoma (43 cases, 47.3%), dermoid cyst (6 cases, 6.6%), and inflammatory pseudotumor (6 cases, 6.6%) were the most common cases in the benign lacrimal gland occupying tumors. There were 33 cases (36.3%) of malignant tumors. Adenoid cystic carcinoma (15 cases, 16.5%), adenocarcinoma (6 cases, 6.6%) and lymphoma (5 cases, 5.5%) had the highest incidence among the malignant lacrimal gland occupying tumors. The most common reason for seeking medical treatment was exophthalmos (50 cases, 54.9%; 30 cases were pleomorphic adenoma). Brow arch mass (22 cases, 24.2%) and pain in and around the eye (9 cases, 9.9%; 5 cases were adenoid cystic carcinoma) were also major reasons. Conclusions: The most common benign lacrimal gland area occupying lesion in surgery patients of Yunnan is pleomorphic adenoma, which more occurred in patients with exophthalmos as the main symptoms. The most common malignant tumor in the lacrimal gland area is adenoid cystic carcinoma and the most common reason to seek medical advice was pain in and around the eye. (Chin J Ophthalmol, 2019, 55:842-846).


Assuntos
Neoplasias Oculares/patologia , Doenças do Aparelho Lacrimal/patologia , Adenocarcinoma/patologia , Adenoma Pleomorfo/patologia , Adolescente , Adulto , Idoso , Carcinoma Adenoide Cístico/patologia , Criança , Pré-Escolar , China , Feminino , Humanos , Lactente , Aparelho Lacrimal/patologia , Linfoma/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
18.
Eur Rev Med Pharmacol Sci ; 23(21): 9238-9250, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31773675

RESUMO

OBJECTIVE: We attempted to clarify the regulatory mechanism of UCA1/miR-331-3p/IL6R on cell progression in multiple myeloma (MM). PATIENTS AND METHODS: The expression of UCA1, miR-331-3p, and IL6R in tumor tissues and cells was measured by qRT-PCR. Cell Counting Kit-8 (CCK-8) was conducted to detect cell proliferation, and flow cytometry assay was applied to examine cell apoptosis. Protein expression of L6R, p-JAK2, p-STAT3, c-Myc, CyclinD1, Bcl-2, and Bax was detected by Western blot assay. The interaction among miR-331-3p, UCA1, and IL6R was determined by Luciferase reporter system. Murine xenograft assay was performed to confirm the biological function of UCA1 in vivo. RESULTS: The expression of UCA1 and IL6R was up-regulated, while miR-331-3p was down-regulated in MM tumors and cell lines compared with normal tissues and cells. By calculation, miR-331-3p was correlated with UCA1 or IL6R inversely. In addition, UCA1 knockdown suppressed cell proliferation and promoted apoptosis in vitro and in vivo. Luciferase reporter system confirmed the interaction between miR-331-3p and UCA1 or IL6R. More importantly, UCA1 restored miR-331-3p mediated inhibition of proliferation and promotion on apoptosis of MM cells. Consistently, IL6R rescued UCA1 knockdown caused repression on MM cell growth and elevation on apoptosis. Besides, UCA1 facilitated the activation of the JAK2/STAT3 signaling pathway by enhancing IL6R expression via targeting miR-331-3p. CONCLUSIONS: UCA1 accelerates proliferation and suppresses apoptosis in MM by targeting miR-331-3p/IL6R axis to activate JAK2/STAT3 pathway, providing potential targets for the diagnosis and therapy of MM.

19.
Zhonghua Yi Xue Za Zhi ; 99(37): 2897-2902, 2019 Oct 08.
Artigo em Chinês | MEDLINE | ID: mdl-31607017

RESUMO

Objective: To identify the clinical outcome and prognostic factors of synchronous multicentric osteosarcoma (SMOS). Methods: The clinical data of 2 602 conventional osteosarcoma patients admitted to Beijing Jishuitan Hospital from January 1995 to June 2018 were retrospectively analyzed. Finally, 56 (2.1%) cases were confirmed as SMOS according to clinical and imaging database, medical record and pathological results.All epidemiological data of SMOS cases,initial diagnosis time, tumor site, number of lesions, chemotherapy, surgical treatment, alkline phosphatase (AKP),lactate dehydrogenase (LDH) and oncological results were collected in our institution. The Survival rate, comparison of various parameters, univariate analysis and multivariate Cox regression were performed with statistical software. Results: There were 41 males and 15 females enrolled in this research, the median and mean ages were 15 and 18 years (range, 8-50 years) respectively. All of them were multi-site involved, whereas the initial complaints of sites distribution were 32 cases of femur, 13 cases of tibia, 4 cases of humerus, 3 cases of fibula, 2 cases of spine, 1 case of sternum and 1 case of calcaneus. Forty-four of 56 cases performed adjuvant chemotherapy and 31 of them underwent surgical treatment. The mean follow-up time was 15.4 (range, 1-186) months. Thirty-five cases died of disease at the end of the follow-up. The 5-year survival rate was 10.4%. According to the number of lesions stratification, the 2-year survival rates in patients with low (<5 sites) and high (≥5 sites) tumor load was 33.6% and 0, respectively (χ(2)=6.697, P=0.010). The 2-year survival rate of chemotherapy and non-chemotherapy patients was 20.8% and 0, respectively (χ(2)=6.998, P=0.008), the value of AKP after chemotherapy(median: 272 IU/L) significantly decreased when compared with that at the initial diagnosis (median: 454 U/L) (Z=-3.274, P=0.001).The 2-year survival rate in patients with and without standard chemotherapy was 55.6% and 0, respectively (χ(2)=8.798, P=0.003). The 2-year survival rate was 25.0% in the surgical group and 0 in the non-surgical group, respectively (χ(2)=7.942, P=0.005). Multivariate cox regression analysis with the forward Wald method indicated that standard chemotherapy was the only variable contributor to survival and prognosis of multifocal osteosarcoma. Conclusions: SMOS has low survival rate and poor prognosis. Chemotherapy and surgery can improve the survival rate, standard chemotherapy is an independent prognostic factor.


Assuntos
Neoplasias Ósseas , Osteossarcoma , Adolescente , Adulto , Criança , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
20.
Zhonghua Yi Xue Za Zhi ; 99(37): 2916-2920, 2019 Oct 08.
Artigo em Chinês | MEDLINE | ID: mdl-31607021

RESUMO

Objective: To summarize the experience and effectivity of brain protection in 25 patients who suffered from chronic thromboembolic pulmonary hypertension (CTEPH) and received pulmonary thromboendarterectomy (PTE) under deep hypothermic circulatory arrest. Methods: Retrospective analysis of 25 PTE surgeries in our center from December 2016 to August 2018. All cases were completed underdeep hypothermic circulatory arrest. Standard brain protections were strictly executed, including: balanced and controlled extracorporeal circulation cooling, cerebral oxygen saturation (rSO(2)) monitoring, strictly control of circulatory arrest time, and etc. The neurological adverse events during the perioperative period were recorded and statistically analyzed, and the intelligence level and cognitive function of the patients were evaluated by MMSE scale and MoCA scale before surgery and discharge. Results: All the 25 patients successfully completed the surgery, and 1 patient (4%) died of postoperative infection. The mean pulmonary arterial pressure decreased from (52.9±16.7) mmHg before surgery to (23.6±8.1) mmHg immediately after surgery (t=10.01, P<0.01), and(20.7±7.9) mmHg at 3 months follow-up (t=10.73, P<0.01). Pulmonary vascular resistance decreased from 975.4 (788.6-1 292.8) dyn·s·cm(-5) to 376.1 (283.6-565.5) dyn·s·cm(-5) (Z=5.34, P<0.01). Neurological complications occurred in 3 patients during the perioperative period, including 2 patients with hypoxic encephalopathy, and 1 patient with cerebral hemorrhage. All 3 patients fully recovered before discharge. Univariate analysis showed that the duration of rSO(2)<40% and the maximum decrease rate of rSO(2) from baseline were significantly correlated with postoperative neurological damage. Multivariate analysis showed only time of rSO(2)<40% was significantly correlated with postoperative neurological damage. There was no significant difference in MMSE and MoCA score before and after surgery (P>0.05). Conclusions: Adequate brain protection measures are essential to reduce the neurological complications of PTE surgery. Real-time intraoperative monitoring of rSO(2) and strict control of circulatory arrest time can further reduce the occurrence of neurological damage.


Assuntos
Hipertensão Pulmonar , Embolia Pulmonar , Encéfalo , Endarterectomia , Humanos , Estudos Retrospectivos
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