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Background

The dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial disorder characterized by progressive cardiomyopathy, prolonged QT interval and early death in childhood related to intractable heart failure. We present a case series of 9 children with DCMA who demonstrated functional improvement and favourable left ventricular remodeling only after digoxin was added to their medical therapy.

Methods

A retrospective review of 46 patients with DCMA followed at the Alberta Children’s Hospital from 2005 to 2017 identified 9 patients who were treated with digoxin and had serial echocardiography data. For each subject, we calculated the difference between baseline and follow-up for left ventricular ejection fraction (LVEF), end-diastolic dimension (LVEDD), and end-systolic dimension (LVESD) as determined by echocardiography.

Results

Patients were on average 45.6 ± 59 months of age when digoxin was started with a mean LVEF of 40% ± 11% when digoxin was started. Seven patients were on angiotensin-converting enzyme inhibitors (ACEIs) at the time of initiation of digoxin, and all were on β-receptor antagonists (BB). After being on digoxin for a mean of 11.7 ± 10.9 months, average LVEF improved to 55% ± 10% (P = 0.0005), and there were significant decreases in the Z-scores for LVEDD (+2.1 ± 1.9 to +0.65 ± 1.4, P = 0.02) and LVESD (+3.83 ± 2.07 to +1.79 ± 1.76, P = 0.01).

Conclusions

In children with DCMA, we report that digoxin seems to have additive beneficial properties when combined with ACEI and BB therapy. This novel observation may have implications for the medical treatment of mitochondrial cardiomyopathies.  相似文献   
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周洁宏  周洁  马步云  何玉霜 《西部医学》2018,30(11):1672-1674
目的 探讨甲状腺恶性肿瘤绿色就诊通道的临床价值。方法 选取2016年1月~2016年12月的甲状腺结节患者进行超声筛查,将TI-RADS分级为3B级及以上的509例患者纳入绿色就诊通道,进行超声专科评估和超声引导下细针抽吸活检(FNAB),采用Bethesda细胞病理报告系统(TBSRTC)进行细胞学诊断,并与同期非绿色就诊通道患者507例进行对比研究。结果 509例绿色就诊通道患者经过超声专科评估后,8例(1.6%)患者选择随访观察,501例(98.4%)患者进行FNAB,绿色就诊通道患者接受穿刺的平均时间为3d(非绿色就诊通道患者为35d)。绿色就诊通道和非绿色就诊通道的TBSRTC结果分别为Ⅰ类(11例,2.1%;81例,15.9%),Ⅱ类(25例,5.0%;96例,18.9%),Ⅲ类(58例,11%;84例,166%),Ⅳ类(8例,1.6%;19例,3.7%),Ⅴ类(39例,7.7%;45例,8.9%)和Ⅵ类(360例,71%;182例,35.7%)。两组患者的无效率、不能诊断率、良性率和恶性率的差异均有统计学意义(P<0.01)。结论 甲状腺恶性肿瘤绿色就诊通道的建立,缩短了患者就诊时间,降低了穿刺的无效率、不能诊断率和良性率,提高了穿刺的恶性率,具有重要的临床价值。  相似文献   
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目的观察创伤急救绿道软件对提升医院创伤中心救治能力的效果。 方法回顾性分析北京门头沟区医院创伤中心2018年1月至2019年12月救治的128例重症创伤患者[损伤严重度评分(ISS)评分≥16]的临床资料,其中男性87例,女性48例,年龄20~65岁,平均年龄(54±7.62)岁。按照救治时间将患者分为对照组(60例)和研究组(68例)。对照组采用常规救治模式,研究组应用创伤急救绿道软件院前院内联动救治模式。比较两组专科会诊医师到达时间、患者完成全身快速电子计算机断层扫描(CT)检查时间、抢救室滞留时间。 结果研究组会诊医师到达时间[(5.07±3.31)min比(8.50±5.25)min]、全身快速CT检查完成时间[(27.88±10.30)min比(32.50±15.13)min]和抢救室滞留时间[(37.00±25.16)min比(48.00min±30.27)min]均短于对照组,差异均有统计学意义(P均<0.05)。 结论创伤急救绿道软件应用于创伤救治中,可有效缩短创伤中心质控各时间节点,提升创伤中心救治能力。  相似文献   
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A previously undescribed feature of a traumatic thoracic aneurysm is presented. The pateint was a young motor cyclist who sustained multiple injuries and died 10 days after admission from delayed rupture of the thoracic aorta which had dissected along oesophageal planes into the stomach. Although the radiological features of traumatic mediastinal haematoma were evident shortly after injury, these features had disappeared in later radiographs creating a false sense of security.  相似文献   
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