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101.
Alan C. Braverman Kevin J. Blinder Sangeeta Khanna Marcia Willing 《American journal of medical genetics. Part A》2020,182(8):1957-1959
Loeys‐Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early‐onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys‐Dietz syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys‐Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys‐Dietz syndrome. We report the case of a 46‐year‐old woman with Loeys‐Dietz syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys‐Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease. 相似文献
102.
Hyperhidrosis and its surgical treatment 总被引:2,自引:0,他引:2
Summary 111 sections of high thoracic sympathectomies in 60 cases suffering from primary palmar hyperhidrosis are reported. Surgical results and postoperative complications are discussed in detail. Complications were few in number and were of a transitory nature. No mortality occurred in our series. Various surgical and nonsurgical procedures of treatment are reviewed. Surgical intervention remains the treatment of ehoice in essential idiopathic hyperhidrosis. 相似文献
103.
Summary The rate of unstimulated influx of Ca2+ into rat aorta smooth muscle, measured as uptake of 45Ca, was inhibited in the presence of endothelium as compared to influx in the absence of endothelium. Efflux of 45Ca from unstimulated prelabelled tissues was also reduced in the presence of endothelium. In normal physiological solution the rate of influx and efflux of Ca2+ stimulated by B-HT 920 (1 and 10 M), but not that stimulated by phenylephrine (30 nM and 1 M), was also reduced in the presence of endothelium. In the presence of the calcium entry blocker flunarizine (3 M), phenylephrine (1 M) stimulated efflux of Ca2+ was inhibited by the presence of endothelium. A correlation between inhibition of Ca2+ influx and modulation of -adrenoceptor agonist-induced contractions by endothelium could not be demonstrated, and methylene blue, an antagonist of endothelium mediated inhibition of B-HT 920 contractions, did not affect Ca2+ influx stimulated by the agonist. The effects of endothelium on Ca2+ influx and efflux are unlikely to be due to alterations by endothelium of diffusion of 45Ca or the agonists in the vessel. The results demonstrate that an endothelial derived factor or factors can reduce calcium influx into smooth muscle cells and also modulate the release of calcium from cells, perhaps by affecting intracellular calcium pumping mechanisms. A reduction of calcium influx cannot be the sole explanation for the modulatory effect of endothelium on -adrenoceptor agonist-induced contractions but an effect on intracellular calcium metabolism may be important. 相似文献
104.
Hans-Martin Becker MD Jairo Ramirez MD Vincent Echave MD Georg Heberer MD 《Annals of vascular surgery》1986,1(2):196-200
From July 1979 to December 1985 we observed 51 patients with traumatic lesions of the descending thoracic aorta. Twenty-nine had acute ruptures, mostly accompanied by multiple injuries, and 27 had to be operated upon immediately. Twenty-two patients (19 males, 3 females) had chronic traumatic aneurysms of the descending thoracic aorta (more than six weeks after trauma). Mean age at the time of trauma was 24 years. Mean age at time of surgery was 36.5 years. Twelve patients were symptomatic. All were treated surgically. At surgery, complete aortic disruption was found in 15 patients and partial rupture in seven. We did not use aortic shunting of any kind, only aortic cross-clamping. Hypertension was controlled by intravenous drug infusion. The ruptured aortic segment was replaced in all cases by prosthetic Dacron graft. There were no operative deaths. One patient (age 77) died 11 weeks after surgery from multiple organ failure. One case of postoperative paraplegia was observed. This patient recovered almost completely from his neurological deficit. 相似文献
105.
犬胸部爆炸伤后海水浸泡的实验模型建立及早期救治结果分析 总被引:2,自引:1,他引:1
目的:建立犬海水浸泡胸部爆炸伤实验模型,探讨早期救治结果。方法:20只成年杂犬随机分为爆炸伤组(n=10)和锐器伤组(n=10)。两组动物均于致伤后浸泡在人工配制的海水中25min,而后打捞出海水环境后予以紧急救治。实验中全程监血液动力学呼吸系统和动脉血气变化。结果:海水浸泡后爆炸伤组的伤情明显重于脱器伤组,经救治后两组生存时间均明显延长,但锐器伤组更为明显。结论:本胸部爆炸伤模型是可行的并且重复性好,创伤后造成的呼吸循环功能变化与临床所见相符,适用于海水浸泡胸部开放伤的早期病理生理研究。爆炸伤的伤情更为严重,除严重电解质紊乱和高渗血症外,严重的肺损伤可能是影响生存时间的重要原因之一。 相似文献
106.
为探讨电视胸腔镜子术(VATS)在纵隔肿瘤诊断和治疗中的价值,从1 998年4月至2000年6月为16例纵隔肿瘤患者进行了VATS均获成功,6例辅助小切口,无手术死亡和围术期并发症.肿瘤切除病例随访4~22个月无复发.结果提示VATS是诊断和治疗纵隔肿瘤的一种新的微创外科方法,尤其适用于中、后纵隔囊状或良性病变的切除和不明病因的肿瘤活检. 相似文献
107.
1999年6月至2000年5月用电视胸腔镜手术(VATS)治疗胸部疾病36例,其中包括自发性气胸、肺大疱切除术20例;凝固性血胸清除、纤维膜剥脱术4例;纵隔肿瘤切除术3例;肺叶切除术2例;肺楔形切除术3例;胸膜间皮瘤切除术1例;广泛性恶性胸膜间皮瘤活检术1例;肺癌胸腔镜探查后中转开胸术2例。治疗效果满意,无手术死亡和并发症发生。纤维支气管镜指导下的双腔气管插管技术和肺功能差者单肺通气时采用CPAP法预防、纠正低氧血症是VATS手术成功的前提和条件。VATS具有创伤小、痛苦轻、恢复快和对美容影响小的优点。自发性气胸、肺大疱切除可列为首选治疗术式。VATS辅助胸壁小切口是较理想的微创手术方式。目前VATS临床应用有局限性,不能代替常规开胸手术,对手术操作难度大的病变或较大的肿瘤仍选择常规开胸手术为宜。 相似文献
108.
109.
Abdominal aortic aneurysm (AAA) is a dilatation of the infra-renal abdominal aorta to greater than 3 cm. Population screening is offered to men in the year of their 65th birthday in the UK. Patients with small, asymptomatic AAAs (<5.5 cm) are entered into surveillance programmes and have their cardiovascular risk factors managed aggressively. An AAA ≥5.5 cm diameter, or one which is symptomatic, should be considered for surgical repair to prevent rupture. Aneurysm repair can be undertaken using either an open surgical or endovascular approach; the decision should be tailored to the individual patient and made by the surgeon and patient, with input from a multi-disciplinary team. 相似文献
110.