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1.
Clin Nucl Med ; 45(4): 316-318, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32049732

RESUMO

Myxoid leiomyosarcoma is a malignant tumor that originates from the mesenchymal tissue with extensive mucoid degeneration. It usually occurs in the uterus; occurrences from other tissues are extremely rare. Here we report the FDG PET/CT findings and clinicopathological of primary pleura myxoid leiomyosarcoma in a 51-year-old man.

2.
J Hazard Mater ; 391: 122206, 2020 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-32036317

RESUMO

Increasing environmental exposure to silica nanoparticles (SiNPs) and limited cardiotoxicity studies posed a challenge for the safety evaluation and management of these materials. This study aimed to explore the adverse effects and underlying mechanisms of subacute exposure to SiNPs on cardiac function in rats. Results from echocardiographic, ultrastructural and histopathological analysis found that SiNPs induced cardiac contractile dysfunction, accompanied by incomplete myocardial structures, disordered sarcomere segments, interstitial edema and myocyte apoptosis in heart. Levels of myocardial enzymes and inflammatory factors were markedly increased in both serum and heart tissue, accompanied by elevated levels of oxidative damage occurred in the hearts of SiNPs-treated rats. SiNPs significantly upregulated the expressions of inflammation and contraction-related proteins, including JNK, p-JNK, c-Jun, TF and PAR1. Lentivirus transfection of JNK shRNA showed the low-expression of JNK-facilitated F-actin and inhibited TF in the SiNPs-treated cardiomyocytes. Moreover, SiNPs activated the mRNA and protein levels of JNK/TF/PAR1 pathway, and these effects were significantly dampened after JNK knock down. Our results demonstrate that SiNPs trigger myocardial contractile dysfunction via JNK/TF/PAR1 signaling pathway.

3.
Artigo em Inglês | MEDLINE | ID: mdl-32088822

RESUMO

Chlorine atoms initiated oxidation reactions are significant for the removal of typical volatile organic compounds (VOCs) in the atmosphere. The intrinsic mechanisms of CH2=CHCOOH + Cl reaction have been carried out at the CCSD(T)/cc-pVTZ//M06-2X/6-311++G(d,p) level. There are hydrogen abstraction and C-addition pathways on potential energy surfaces. By analyses, the addition intermediates of IM1(ClCH2CHCOOH) and IM2(CH2CHClCOOH) are found to be dominant. The secondary reactions of IM1 and IM2 have been discussed in the presence of O3, O2, NO, and NO2. And we have also investigated the degradation mechanisms of ClCH2CHO2COOH with NO, NO2, and self-reaction. Moreover, the atmospheric kinetics has been calculated by the variable reaction coordinate transition-state theory (VRC-TST). As a result, the rate constants show negative temperature and positive pressure dependence. The atmospheric lifetime and global warming potentials of acrylic acid have been calculated. Overall, the current study elucidates a new mechanism for the atmospheric reaction of chlorine atoms with acrylic acid.

4.
Environ Pollut ; 249: 482-490, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30928520

RESUMO

Epidemiological evidence showed that the particulate matter exposure is associated with atherosclerotic plaque progression, which may be related to foam cell formation, but the mechanism is still unknown. The study was aimed to investigate the toxic effects and possible mechanism of PM2.5 on the formation of macrophage foam cells induced by oxidized low density lipoprotein (ox-LDL). Results showed that PM2.5 induced cytotoxicity by decreasing the cell viability and increasing the LDH level in macrophage foam cells. PM2.5 aggravated the lipid accumulation in ox-LDL-stimulated macrophage RAW264.7 within markedly increasing level of intracellular lipid by Oil red O staining. The level of ROS increased obivously after co-exposure to PM2.5 and ox-LDL than single exposure group. In addition, serious mitochondrial damage such as the mitochondrial swelling, cristae rupturing and disappearance were observed in macrophage foam cells. The loss of the mitochondrial membrane potential (MMP) further exacerbated the mitochondrial damage in PM2.5-induced macrophage foam cells. The apoptotic rate increased more severely via up-regulated protein level of Bax, Cyt C, Caspase-9, Caspase-3, and down-regulated that of Bcl-2, indicating that PM2.5 activated the mitochondrial-mediated apoptosis pathway. In summary, our results demonstrated that PM2.5 aggravated the lipid accumulation, mitochondrial damage and apoptosis in macrophage foam cells, suggesting that PM2.5 was a risk factor of atherosclerosis progression.


Assuntos
Apoptose/efeitos dos fármacos , Células Espumosas/patologia , Lipoproteínas LDL/metabolismo , Potencial da Membrana Mitocondrial/fisiologia , Material Particulado/toxicidade , Placa Aterosclerótica/patologia , Animais , Aterosclerose/patologia , Caspase 3/biossíntese , Caspase 9/biossíntese , Linhagem Celular , Citocromos c/biossíntese , Metabolismo dos Lipídeos/efeitos dos fármacos , Camundongos , Células RAW 264.7 , Espécies Reativas de Oxigênio/metabolismo , Transdução de Sinais/efeitos dos fármacos , Regulação para Cima , Proteína X Associada a bcl-2/biossíntese
5.
Sci Total Environ ; 667: 751-760, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30851608

RESUMO

In this study, mechanically-dewatered sludge was used to investigate the effect of electro-dewatering (EDW) under two electrical modes, which are constant current mode followed by constant voltage mode (CV-EDW), and constant voltage mode followed by constant current mode (VC-EDW). The effect of current and voltage changes on dewatering efficiency and energy consumption of sludge electroosmosis under CV-EDW and VC-EDWs was evaluated The results show that compared with constant current mode (C-EDW), CV-EDW can improve the final dry solids content and reduce the heating rate, and the final dry solids content and unit energy consumption increase with the decrease of current and the increase of voltage. Under CV-EDW, when the dry solids content is 32%, the energy consumption can be reduced by changing to the constant voltage stage, and the energy consumption is 0.093-0.113 kWh/kgwater. Compared with constant voltage mode (V-EDW), VC-EDW significantly improves sludge dewatering rate. Under VC-EDW, the final dry solids content of sludge increases with the decrease of current and voltage. When the voltage is decreased by 10 V, the unit energy consumption is reduced by 27.15 ±â€¯1.77% on average, and the energy consumption is 0.132-0.163 kWh/kgwater. Compared with CV-EDW, the dehydration rate of VC-EDW is increased by 72.9% on average. However, the unit energy consumption required for dehydration increases by 43.09% when the dry solids content is less than 45%.

6.
Medicine (Baltimore) ; 98(5): e14270, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30702589

RESUMO

RATIONALE: Mucosa-associated lymphoid tissue (MALT) lymphoma is an extranodal low-grade B cell lymphoma that generally exhibits an indolent clinical course. Currently, the application of F-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) in MALT lymphoma is still controversial. Herein, we reported a case of using F-FDG PET/CT for staging and response assessment of primary parotid MALT lymphoma with multiple sites involvement. As far as we know, there are no similar case reports have been published before. PATIENT CONCERNS: A 71-year-old woman, who received mass resection twice during the past 2 years due to the repeatedly relapse of facial painless masses and diagnosed as reactive lymphoid hyperplasia by pathologic tests. However, the pathological diagnosis was then changed to primary parotid MALT lymphoma after left parotidectomy operation because of a new mass found in her left parotid. Four months later, the right eyelid of the patient swelled with a blurred vision. Then, F-FDG PET/CT scan was performed for staging, and the imaging results showed an abnormal increase of F-FDG uptake in multiple sites including bilateral ocular adnexal, lungs, pleura, occipital subcutaneous tissue, left kidney, and lymph nodes. DIAGNOSES: The patient was diagnosed as primary parotid MALT lymphoma with Ann Arbor stage of IVA based on the F-FDG PET/CT findings. INTERVENTIONS: The patient received 4 cycles of chemotherapy, followed by a partial metabolic remission (PMR), which was determined by interim F-FDG PET/CT, and finally additional 2 cycles of chemotherapy. OUTCOMES: The follow-up study illustrated that the patient had been alive and doing well at 12 months after chemotherapy. LESSONS: Although MALT lymphoma normally localizes in the primary organs, the involvement of multiple organs and lymph nodes is possible. The use of PET/CT demonstrated significant clinical values in the accurate staging and response assessment of F-FDG-avid MALT lymphoma. It is potentially useful for indicating the progress and transformation of MALT lymphoma, and guidance in localization of pathological biopsy. It is also helpful for clinicians to choose reasonable treatment strategy and improve the prognosis of patients.


Assuntos
Linfoma de Zona Marginal Tipo Células B/diagnóstico por imagem , Linfoma de Zona Marginal Tipo Células B/patologia , Neoplasias Parotídeas/diagnóstico por imagem , Neoplasias Parotídeas/patologia , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ciclofosfamida/uso terapêutico , Feminino , Fluordesoxiglucose F18 , Humanos , Linfoma de Zona Marginal Tipo Células B/tratamento farmacológico , Estadiamento de Neoplasias , Neoplasias Parotídeas/tratamento farmacológico , Prednisona/uso terapêutico , Rituximab/uso terapêutico , Vincristina/uso terapêutico
7.
Environ Sci Pollut Res Int ; 25(25): 24939-24950, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29931646

RESUMO

The hydroxyl radical, as the most important oxidant, controls the removal of some volatile organic compounds (VOCs) in the atmosphere. In this work, the atmospheric oxidation processes of acrylic acid by OH radical have been investigated by density functional theory (DFT). The energetic routes of the reaction of CH2CHCOOH with OH radical have been calculated accurately at the CCSD(T)/cc-pVTZ//M06-2X/6-311++G(d,p) level. It is implicated that the oxidation has five elementary reaction pathways mostly hinging on how hydroxyl radical approaches to the carbon skeleton of acrylic acid. The atmospheric degradation mechanisms of the CH2CHCOOH by OH radical are the formation of reactive intermediates IM1 and IM2. Meanwhile, the further oxidation mechanisms of IM1 and IM2 by O3 and NO are also investigated. The rate coefficients have been computed using tight transition state theory of the variflex code. The calculated rate coefficient is 2.3 × 10-11 cm3 molecule-1 s-1 at standard pressure and 298 K, which is very close to the laboratory data (1.75 ± 0.47 × 10-11 cm3 molecule-1 s-1). Moreover, the atmospheric lifetime of acrylic acid is about 6 h at 298 K and 1 atm, implying that the fast sinks of acrylic acid by hydroxyl radical.


Assuntos
Acrilatos/química , Atmosfera/química , Radical Hidroxila/química , Teoria Quântica , Cinética , Oxirredução
8.
Int J Mol Med ; 40(4): 1037-1046, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28902364

RESUMO

CCAAT enhancer binding protein alpha (C/EBPα) is a transcription factor regulating the core aspects of cell growth and differentiation. The present study investigated the level and functional role of C/EBPα during the development of the rat lung. C/EBPα protein exhibits a dynamic expression pattern. The correlation between the expression of C/EBPα protein and the content of glycogen during lung maturation was analyzed to understand the function of C/EBPα in lung differentiation. The high expression of C/EBPα coincides with the reduction of glycogen in the fetal lung. In addition, the authors identified that changes in the level of C/EBPα are associated with the secretion of pulmonary surfactant. C/EBPα is modified by small ubiquitin-related modifier (SUMO) post-translationally. The results of double immunofluorescence staining and immunoprecipitation demonstrated that SUMO-modified C/EBPα was present in the lung. The sumoylated C/EBPα gradually decreased during lung differentiation and was negatively correlated with pulmonary surfactant secretion, thereby suggesting that the SUMO modification may participate in C/EBPα-mediated lung growth and differentiation. These results indicated that C/EBPα played a role in lung development and provided the insight into the mechanism underlying SUMO-modification.


Assuntos
Proteína alfa Estimuladora de Ligação a CCAAT/metabolismo , Pulmão/embriologia , Pulmão/metabolismo , Proteínas Associadas a Surfactantes Pulmonares/metabolismo , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo , Animais , Diferenciação Celular , Feminino , Glicogênio/metabolismo , Pulmão/citologia , Morfogênese , Fosfatidilcolinas/metabolismo , Fosfolipídeos/metabolismo , Ratos Sprague-Dawley
9.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 33(6): 767-771, 2017 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-28615099

RESUMO

Objective To explore the effect of hyperoxia on the expressions of CCAAT enhancer binding protein α (C/EBPα) and pulmonary surfactant proteins (SP-A, SP-B, SP-C, SP-D) and their correlations in primary type II alveolar epithelial cells (AECIIs) from premature rats. Methods AECIIs were divided into an air control group and a hyperoxia model group. The cells of the two groups were respectively exposed toair and 950 mL/L O2. The cells were harvested at 24, 48, and 72 hours after exposure. Inverted phase-contrast microscope was used to observe morphological changes of the cells. Real-time quantitative PCR and Western blotting were performed to measure the mRNA and protein expressions of C/EBPα, SP-A, SP-B, SP-C and SP-D. Cell Counting Kit-8 (CCK-8) was applied to detect the proliferation of AECIIs. Results With the prolonging incubation time, the air group showed a significantly decreasing mRNA and protein expressions of C/EBPα, and significantly ascending mRNAand protein expressions of SP-A, SP-B, SP-C, SP-D and increasing proliferation of AECIIs. The mRNA and protein expressions of SP-A, SP-B, SP-C, SP-D and the proliferation of AECIIs in the hyperoxia group showed a trend of increasing at first and then decreasing as the culture time went on. Compared with the air group, the hyperoxia group showed significantly increased mRNA and protein expressions of C/EBPα and SP-A, SP-B, SP-C, SP-D and enhanced proliferation of AECIIs at 48 hours. In the hyperoxia group, the protein expression of C/EBPα was positively correlated with the protein expressions of SP-A, SP-B, SP-C, SP-D as well as the proliferation of AECIIs(r=0.96, 0.98, 0.92, 0.97, 0.90). Conclusion In the early stage of hyperoxia exposure, C/EBPα can promote the secretion of pulmonary surfactant protein to participate in the body's protective regulation. However, over the time of hyperoxia exposure, C/EBPα loses compensatory protective effect.


Assuntos
Proteína alfa Estimuladora de Ligação a CCAAT/análise , Hipóxia Celular , Células Epiteliais/química , Surfactantes Pulmonares/análise , Animais , Proteína alfa Estimuladora de Ligação a CCAAT/genética , Proliferação de Células , Células Cultivadas , Células Epiteliais/fisiologia , Feminino , Masculino , RNA Mensageiro/análise , Ratos , Ratos Sprague-Dawley
10.
Medicine (Baltimore) ; 96(5): e5901, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28151866

RESUMO

INTRODUCTION: Ebstein's anomaly is a benign and stable congenital heart disease for asymptomatic patients. Despite a low incidence of Ebstein's anomaly (EA), patients' quality of life can be badly affected by EA without positive surgical intervention. Especially EA is associated with other congenital heart disease, such as the atrial septal defect, patent foramen ovale, and arterial embolism exclude other reasons, it is often considered to be the consequence of paradoxical embolism, and surgical intervention must be conducted. CASE REPORT: An 11-year-old girl falling off the bed suffered pain from left lower extremity. Echocardiographic evaluation revealed an EA, severe tricuspid regurgitation, and secundum atrial septal defect. Both left leg amputation and cardiac surgery were conducted after recovery. Under the condition of anesthesia cardiopulmonary bypass extracorporeal circulation, atrial septal defect repair and Cone reconstruction of the tricuspid valve were performed. Patient recovered well and left hospital smoothly. DISCUSSION: EA is a rare and complex congenital cardiac malformation. There are about 80% to 90% of EA patients with combined atrial septal defect and patent foramen ovale. Sudden arterial occlusion is very rare especially in childhood. When thoracic roentgenoscopy, arterial blood gas analysis, coagulation test, and echocardiographic of lower extremity deep venous system are all normal, one should consider the possibility of a paradoxical embolism. If patients have the paradoxical embolism or worsening tricuspid regurgitation, the most suitable therapeutic regimen should be chosen according to patients' condition. With surgical techniques and methods renewed continuously, cone reconstruction of the tricuspid valve has been confirmed in clinical trials, which can use its own tissues to form not only central bloodstream, but also the coaption between leaflet and leaflet.


Assuntos
Anomalia de Ebstein/complicações , Embolia Paradoxal/complicações , Embolia/etiologia , Extremidade Inferior , Criança , Feminino , Humanos
11.
Drug Dev Ind Pharm ; 43(5): 839-846, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27487431

RESUMO

OBJECTIVE: The purpose of this study was to prepare the positively charged chitosan (CS)- or hydroxypropyl trimethyl ammonium chloride chitosan (HACC)-modified solid lipid nanoparticles (SLNs) loading docetaxel (DTX), and to evaluate their properties in vitro and in vivo. METHODS: The DTX-loaded SLNs (DTX-SLNs) were prepared through an emulsion solvent evaporation method and further modified with CS or HACC (CS-DTX-SLNs or HACC-DTX-SLNs) via noncovalent interactions. The gastrointestinal (GI) stability, dissolution rate, physicochemical properties and cytotoxicities of SLNs were investigated. In addition, the GI mucosa irritation and oral bioavailability of SLNs were also evaluated in rats. RESULTS: The HACC-DTX-SLNs were highly stable in simulated gastric and intestinal fluids (SGF and SIF). By contrast, the CS-DTX-SLNs were less stable in SIF than in SGF. The drug dissolution remarkably increased when DTX was incorporated into the SLNs, which may be attributed to the change in the crystallinity of DTX and some molecular interactions that occurred between DTX and the carriers. The SLNs showed low toxicity in Caco-2 cells and no GI mucosa irritations were observed in rats. A 2.45-fold increase in the area under the curve of DTX was found in the HACC-DTX-SLN group compared with the DTX group after the modified SLNs were orally administered to rats. However, the oral absorption of DTX-SLN or CS-DTX-SLN group showed no significant difference compared with that of DTX group. CONCLUSIONS: The positively charged HACC-DTX-SLNs with a stable particle size could provide the enhanced oral bioavailability of DTX in rats.


Assuntos
Quitosana/química , Quitosana/metabolismo , Trato Gastrointestinal/metabolismo , Lipídeos/química , Nanopartículas/química , Taxoides/química , Taxoides/metabolismo , Administração Oral , Animais , Disponibilidade Biológica , Líquidos Corporais/metabolismo , Células CACO-2 , Docetaxel , Portadores de Fármacos/química , Liberação Controlada de Fármacos/efeitos dos fármacos , Emulsões/química , Emulsões/metabolismo , Humanos , Mucosa Intestinal/metabolismo , Masculino , Tamanho da Partícula , Ratos , Ratos Sprague-Dawley , Solubilidade
12.
Medicine (Baltimore) ; 96(52): e8727, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29384893

RESUMO

RATIONALE: To investigate the early and mid-term clinical outcomes of the modified cone reconstruction in the treatment of Ebstein's anomaly (EA) which provide appropriate surgical treatment for clinical and reduce the incidence of re-operation and valve replacement. PATIENT CONCERNS: Clinical data of 18 consecutive patients with EA in our hospital between May 2008 and August 2015 were analyzed retrospectively. All patients were diagnosed by echocardiography. Among these patients, according to New York Heart Association functional grade, there were 12 patients with grade II cardiac function and 6 patients with grade III. All patients had severe tricuspid regurgitation grade. DIAGNOSES: All patients were diagnosed EA. One case was with acute arterial embolism and amputation of left lower extremity caused by paradoxical embolism of combined secundum atrial septal defect. INTERVENTIONS: The modified cone reconstruction in the treatment of EA of the tricuspid valve uses its own tissues to form not only central bloodstream, but also the coaption between 2 leaflets. For those patients whose anterior leaflet developed poor and smaller, the valve leaflet was widened by using autologous pericardial. For all patients, tricuspid annulus were reinforced by autologous pericardial. One case was combined with double-orifice technique due to postoperative poor closure of the tricuspid valve. OUTCOMES: There were 2 cases with arrhythmia, and they returned to normal after medication. The rest patients recovered smoothly with no death. Review of echocardiography: 1 patient with moderate regurgitation, the rest of patients' leaflets coapted well and had no tricuspid stenosis. All cases were followed up postoperatively for 9 to 38 months, and there were 14 patients with grade I cardiac function and 4 patients with grade II. LESSONS: The early and mid-term clinical outcomes of the modified cone reconstruction in the treatment of EA were which can make leaflets coapt and had a strong antiregurgitation ability, reducing the incidence of re-operation, valve replacement, and postoperative mortality.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Anomalia de Ebstein/cirurgia , Adolescente , Adulto , Débito Cardíaco , Criança , Pré-Escolar , Anomalia de Ebstein/complicações , Anomalia de Ebstein/fisiopatologia , Feminino , Humanos , Masculino , Reoperação , Estudos Retrospectivos , Resultado do Tratamento , Insuficiência da Valva Tricúspide/diagnóstico , Insuficiência da Valva Tricúspide/etiologia , Insuficiência da Valva Tricúspide/prevenção & controle , Adulto Jovem
13.
Mol Pharm ; 13(8): 2667-76, 2016 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-27379550

RESUMO

Solid lipid nanoparticles (SLNs) are one of the most promising nanocarriers to increase the oral absorption of drugs with poor solubility and low permeability. However, the absorption mechanism of SLNs remains incomplete and thus requires further careful consideration. In this study, positively charged chitosan (CS) modified SLNs or hydroxypropyl trimethylammonium chloride chitosan (HACC) modified SLNs were designed and their absorption mechanisms were fully clarified to improve the oral absorption of docetaxel (DTX). The HACC-DTX-SLNs showed the highest cellular uptake in Caco-2 cell monolayer; the transport efficacy in the follicle-associated epithelium cell monolayer was higher than that in the Caco-2 cell monolayer. The CS- or HACC-modified SLNs could reversibly regulate the transepithelial electrical resistance and the expressions of tight junction (TJ) associated proteins, such as claudin-1, occludin, and zonula occludens-1. The uptake of HACC-DTX-SLNs through Peyer's patches was higher than that of the normal tissue of the small intestine in rats. The enhanced absorption mechanisms of HACC-DTX-SLNs were mainly related to the caveola-mediated endocytosis, M cell phagocytosis, and reversible TJ opening.


Assuntos
Mucosa Intestinal/metabolismo , Lipídeos/química , Nanopartículas/química , Taxoides/metabolismo , Animais , Células CACO-2 , Quitosana/química , Docetaxel , Humanos , Masculino , Microscopia Eletrônica de Transmissão , Ratos , Ratos Sprague-Dawley
14.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 50(10): 624-6, 2015 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-26757633

RESUMO

OBJECTIVE: To evaluate the effect of bleomyin A5 combined with phosphorus-32 colloid in the treatment of mucocele. METHODS: A total of 214 patients divided into three groups, bleomyin A5 (50 cases), phosphorus-32 colloid (50 cases) and bleomyin A5 combined with phosphorus-32 colloid (114 cases). RESULTS: The efficacy of bleomyin A5 group, phosphorus-32 colloid group, and bleomyin A5 combined with phosphorus-32 colloid group was 84% (42/50), 82% (41/50) and 98% (112/114), respectively. There were significant difference in efficacy among the three groups (P < 0.05). The phosphorus-32 colloid group and the bleomyin A5 group had no significant difference in efficacy (P > 0.05). CONCLUSIONS: The independent use of bleomyin A5 and phosphorus-32 colloid is effective, but the combined use of the two methods is more effective.


Assuntos
Bleomicina/análogos & derivados , Mucocele/terapia , Radioisótopos de Fósforo/uso terapêutico , Bleomicina/uso terapêutico , Coloides , Terapia Combinada/métodos , Humanos , Fósforo , Resultado do Tratamento
15.
Pediatr Cardiol ; 34(2): 226-30, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22777240

RESUMO

The HOXA1 gene plays a fundamental role in embryonic morphogenesis. Recent studies in humans and mice have indicated that HOXA1 plays a previously unrecognized role in cardiovascular system development. Congenital heart disease (CHD), particularly ventricular septal defect (VSD), might be a clinically isolated manifestation of HOXA1 mutations. The purpose of the present study was to identify potential pathological mutations in the HOXA1 gene in Chinese children with VSD and to gain insight into the etiology of CHD. A total of 340 nonsyndromic VSD patients and 200 normal subjects were sampled. Two exons and the nearby introns of the human HOXA1 gene were amplified using polymerase chain reaction (PCR). The PCR products were purified and directly sequenced. However, no nonsynonymous mutations in the coding regions of the HOXA1 gene were observed: Only two novel synonymous mutations (c.C210T p.His70His, and c.T861A p.Arg287Arg) were found in two patients. Two previously reported single and multiple histidine-deletion variants were identified in both normal and VSD patients. To our knowledge, this is the first study to investigate the role of the HOXA1 gene in CHD. Although our results did not show any pathogenic HOXA1 mutation, our results suggest that VSD might not be a clinically isolated manifestation of HOXA1 mutations.


Assuntos
DNA/genética , Comunicação Interventricular/genética , Proteínas de Homeodomínio/genética , Mutação , Fatores de Transcrição/genética , Criança , Pré-Escolar , China/epidemiologia , Análise Mutacional de DNA , Éxons , Feminino , Comunicação Interventricular/sangue , Comunicação Interventricular/epidemiologia , Proteínas de Homeodomínio/sangue , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Proteínas de Neoplasias , Fenótipo , Reação em Cadeia da Polimerase , Fatores de Transcrição/sangue
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