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《Clinical Lymphoma, Myeloma & Leukemia》2020,20(8):e529-e541
IntroductionThe presence of FMS-like tyrosine kinase 3 (FLT3) internal tandem duplication (ITD) mutation in pediatric acute myeloid leukemia (AML) is associated with high rates of induction failure and worse survival. Its presence places the patient into a high-risk group. We aimed to describe the outcome of pediatric AML with FLT3-ITD mutation.Patients and MethodsWe performed a retrospective analysis of cases of AML from July 2007 till July 2017 at Children’s Cancer Hospital Egypt.ResultsSeventy-one patients had FLT3 gene mutation out of 687 patients with AML. Sixty-five patients had FLT3 gene mutation with allelic ratio > 0.4; 43 (66.1%) of 65 patients experienced complete remission (CR). Of the 43 patients, 16 patients maintained CR, 18 patients relapsed after first CR, 8 patients died, and 1 patient was lost to follow-up. Patients with relapsing disease died after salvage chemotherapy, except for one patient, who was alive after second CR. Allogeneic bone marrow transplantation (allo-BMT) was performed for 9 (13.8%) of 65 patients in first CR, of whom 8 were alive and in CR, and 1 patient experienced disease relapse and died. Seven patients (10.7%) were alive without allo-BMT. Three years’ overall and event-free survival for patients with FLT3-ITD mutation with high allelic ratio was 26.9% and 22.8%, respectively. Three years’ overall and event-free survival for patients treated with allo-BMT was 77.8% and 78.8%, respectively, versus patients treated without allo-BMT, 16.3% and 12.8%, respectively.ConclusionFLT3-ITD mutation in pediatric AML was associated with poor treatment outcomes, and the survival of relapsing patients was extremely poor. Allo-BMT in first remission was the best treatment option. Alternative donor transplants and FLT3 inhibitors are needed to improve outcome in developing countries. 相似文献
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《Archivos de la Sociedad Espa?ola de Oftalmología》2022,97(1):28-33
Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations.A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations.Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma.Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment. 相似文献
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Mario Gaudino Filippo Piatti Christopher Lau Francesco Sturla Jonathan W. Weinsaft Luca Weltert Emiliano Votta Nicola Galea Ilaria Chirichilli Antonino Di Franco Marco Francone Carlo Catalano Alberto Redaelli Leonard N. Girardi Ruggero De Paulis 《The Journal of thoracic and cardiovascular surgery》2019,157(2):455-465
Objectives
This study applied advanced 4-dimensional flow magnetic resonance imaging processing to assess differences in aortic flow dynamics after valve sparing root replacement, with and without reconstruction of the Valsalva sinuses.Methods
We enrolled patients after valve sparing root replacement with a straight tubular prosthesis (n = 10) or with a prosthesis with Valsalva neosinuses (n = 10); age-matched subjects without cardiovascular diseases served as controls (n = 10). 4-Dimensional flow magnetic resonance imaging acquisitions were performed on a 3.0T magnetic resonance imaging unit. In-house processing was used to segment the aortic lumen and extract the volumetric 4-dimensional flow velocity field. Velocity flow streamlines were computed to compare the amount of rotational flow and wall shear stress. Occurrence of abnormal wall shear stress (WSS) was estimated within the descending aorta of each surgical group.Results
Physiologic-like sinus vortices were visible in the aortic root when using the prosthesis with neosinuses, whereas straight tubular graft revealed localized intrados malrotations (P = .003 for organized vortical structures vs neosinuses graft and P < .001 vs control). In the ascending aorta, recreation of the sinuses resulted in significantly lower velocity and WSS than in the straight tubular graft (P < .001) and controls (P < .001), these alterations were attenuated in the mid-descending aorta. Incidence of abnormal WSS was markedly higher in the straight tube grafts than neosinus of Valsalva grafts.Conclusions
Re-creation of the sinuses of Valsalva during valve-sparing root replacement is associated with more physiologic flow and significantly lower WSS in the aortic root. Lower WSSs in the distal thoracic aorta is a novel finding with potential implications on distal aortic remodeling. 相似文献5.
目的分析并探究双侧延髓内侧梗死(BMMI)的血管病因、临床表现、MRI特征和预后,以期提高BMMI的早期诊断率.方法对青岛大学附属烟台毓璜顶医院诊治的14例BMMI患者临床资料进行分析.结果BMMI血管病因以动脉粥样硬化为主;临床症状表现为四肢瘫痪、舌瘫、感觉异常、头晕、构音障碍、饮水呛咳等,危重时出现呼吸衰竭.头颅DWI示双侧延髓内侧可呈特征性"心型"、"Y"字型、"V"字型或倒"八"字型高信号影.出院NIHSS评分、卒中进展(尤其呼吸衰竭)为BMMI的预后不良因素.结论BMMI临床少见,临床表现多样,预后较差;头颅MRI为其主要的影像学检查,有助于早期诊断. 相似文献
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中药挥发油质量的稳定性是其发挥临床疗效及确保安全性的重要前提。由于中药挥发油的质量受到入药部位、药材产地、药材采收期、提取工艺、炮制工艺等诸多因素的影响,从而导致挥发油的出油率或所含化学成分出现差异,影响中药挥发油质量的均一性,进而影响挥发油的疗效。因此,如何把控挥发油的质量是中药挥发油发挥作用的关键。分析了药材不同入药部位、不同产地和不同采收期对中药挥发油质量的影响,并对《中国药典》2015年版含有挥发油成分的196味中药按药用部位进行分类,讨论了不同入药部位、产地和采收期对中药挥发油成分的差异性,以期为中药挥发油的开发及中药挥发油质量标准的建立提供参考。 相似文献
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目的:通过观察下丘脑环磷酸腺苷(cyclic adenosine monophosphate, cAMP)/蛋白激酶A(protein kinase, PKA)/磷酸化蛋白激酶(phosphorylase kinase, PhK)/糖原磷酸化酶(glycogen phosphorylase, GP)通路的变化,从中枢糖原分解方面探讨脾气虚食少腹胀发生机制。方法:16只雄性SD大鼠按随机数字表法分为正常组和脾气虚组(模型组)各8只,代谢笼计量大鼠24 h进食水量,炭末推进法检测大鼠的胃残留率和小肠推进率,透射电镜观察下丘脑糖原颗粒情况,ELISA法检测下丘脑ATP、cAMP和PKA水平,Western blot法检测下丘脑PhK和GP表达。结果:与正常组比较,模型组大鼠进食水量减少,胃残留率增加,小肠推进率下降,下丘脑ATP、cAMP和PKA水平下降,下丘脑PhK、GP表达降低,差异有统计学意义。结论:脾气虚食少腹胀与cAMP-PKA-PhK-GP通路抑制所导致的下丘脑能量供给不足有关。 相似文献
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Máximo Fernández Patricio Ahumada-Galleguillos Elisa Sentis Gonzalo Marín Jorge Mpodozis 《The Journal of comparative neurology》2020,528(2):321-359
Recent reports have shown that the avian visual dorsal ventricular ridge (DVR) is organized as a trilayered complex, in which the forming layers—the thalamo-recipient entopallium (E), an overlaying nidopallial stripe called intermediate nidopallium (NI), and the dorsally adjacent mesopallium ventrale—appear to be extensively interconnected by topographically organized columns of reciprocal axonal processes running perpendicular to the layers, an arrangement highly reminiscent to that of the sensory cortices of mammals. In the present report, we implemented in vivo anterograde and retrograde tracing techniques aiming to elucidate the organization of the connections of this complex with other pallial areas. Previous studies have shown that the efferent projections of the visual DVR originate mainly from the NI and E, reaching several distinct associative and premotor nidopallial areas. We found that the efferents from the visual DVR originated solely from the NI, and confirmed that the targets of these projections were the pallial areas described by previous studies. We also found novel projections from the NI to the visual hyperpallium, and to the lateral striatum. Moreover, we found that these projections were reciprocal, topographically organized, and originated from different cell populations within the NI. We conclude that the NI constitutes a specialized layer of the visual DVR that form the core of a dense network of highly specific connections between this region and other higher order areas of the avian pallium. Finally, we discuss to what extent these hodological properties resemble those of the mammalian cortical layers II/III. 相似文献
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