Loss of function,missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes.     

Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate—Rapid Tumor Regression Documented by Real Time 3D Echocardiography

The presented case reports on successful treatment with everolimus in a neonate with left ventricular giant rhabdomyoma. The authors used a different dosage regime compared to literature and documented rapid tumor regression by 3D echocardiography.     

口内入路下颌角弧线形截骨术

目的:探索更好的下颌角肥大截骨缩小术式。方法:为获得更好的术后效果,我们采用口内入路下颌角弧形截骨术,将弧形截骨线延长到颏神经处,并对颏结节进行打磨,使截骨线延续流畅,伴小颏者同时行隆颏或颏截骨前移。结果:自2002年以来,我科采用口内入路下颌角长弧线形截骨术矫正320例下颌角肥大患者,均取得了良好的效果。结论:口内入路延长弧形截骨术缩小下颌角可以获得更好术后效果。     

Cardiac myxoma with glandular component: case report

Cardiac myxoma has varying clinical presentation, uncertain histogenesis and debatable immunohis- tochemical profile. Glandular epithelial differentiation is a rare phenomenon, but glandular elements are known to be present in cardiac myxoma as an intrinsic component of the tumor. We present a case of cardiac myxoma having focal glandular differentiation, with special reference to the morphologic features and immunohistochemical profiles.     

A Clinical Study of Reversing Left Ventricular Hypertrophy in Hypertensive Patients by Adalat

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左半结肠癌并急腹症的外科治疗

目的 探讨左半结肠癌并急腹症的外科治疗方法.方法 回顾性分析我院2000年1月～2008年12月收治的左半结肠癌并急腹症36例的临床资料,所有病例均急诊手术治疗,其中行一期切除吻合术28例,Hartmann手术5例,肿瘤未能切除横结肠造瘘术3例.结果 术后出现吻合口瘘1例,切口感染4例,肺部感染2例,大便次数增多1例,围手术期死亡1例.结论 提高对左半结肠癌并急腹症的认识,手术应根据具体病情选择合理的术式,尽可能行一期切除吻合术,提高患者的生活质量,延长其生存期,避免二次手术的痛苦.     

完全性左束支传导阻滞伴快速心房纤颤并急性左心衰竭的抢救

目的总结完全性左束支传导阻滞伴快速心房纤颤并急性左心衰竭的治疗经验,以提高抢救成功率.方法对经抢救治疗的完全性左束支传导阻滞伴快速心房纤颤并急性左心衰竭9例(16次)患者进行治疗方面的回顾分析.结果9例(16次)患者14次抢救成功,成功率87.0%,但复发率较高,预后较差,有5例患者在抢救时或出院后1～2年内猝死.结论该组患者经传统"强心、利尿、扩血管",控制心房纤颤、心室率等治疗是远远不够的.应在未发生肺泡性肺水肿及心源性休克之前,尽早尽快地应用血管扩张剂及联合应用小剂量非洋地黄类正性肌力药物,并维持治疗24～72 h.其中以酚妥拉明加多巴胺和(或)多巴酚丁胺效果可能较佳,血管扩张剂硝酸酯类不及α-受体阻滞剂酚妥拉明疗效明显.