Atypical Abnormal Pulmonary Vein Drainage with Atrial Septal Defect: Surgical Treatment

Sinus venosus atrial septal defect (SV‐ASD) usually coexists with partial anomalous pulmonary vein connection (PAPVC). It is a difficult diagnosis in transthoracic echocardiography (TTE) due to eccentric position of defects. We present a rare case of atypical anatomical variation in PAPVC, which was never described before. Two right pulmonary veins drained into superior vena cava, which overrode SV‐ASD and interatrial septum, a third pulmonary vein into the right atrium. Complete diagnosis could not be set after TTE, nor transesophageal echocardiography, whereas angio‐CT was finally conclusive. This diagnostic approach allowed the surgical planning.     

足趾移植长手指全形再造术的临床应用

目的探讨足趾移植长手指全形再造手术的临床疗效。方法自2015年6月至2019年6月,对16例因外伤致手指缺损患者采用足趾移植长手指全形再造术,术后评估供区及受区的感觉功能、运动功能及外观形态,分析指甲畸形及增生性瘢痕的发生情况,并记录术后发生感染、血肿、皮片坏死及供区愈合不良等情况;通过调查问卷的方式分析患者的满意度。结果所有患者术后获随访1~12个月,其中2例受区发生感染,1例受区皮片边缘发生坏死,经换药后予以缓解;其余患者的供、受区均未出现长时间的痛疼感觉,受区感觉功能恢复达87.50%,受区运动功能恢复均较满意,手指外形基本满意。供区感觉受影响者2例,运动功能受限者1例,外形一般者2例。所有患者无指甲畸形及增生性瘢痕发生;满意者1例,基本满意者14例,不满意者1例。结论采用足趾移植长手指全形再造手术,基本可以满足患者及医师对于缺损手指进行完美修复的目标。     

Ocular dysfunctions and toxicities induced by antiepileptic medications: Types,pathogenic mechanisms,and treatment strategies

Introduction: Ocular dysfunctions and toxicities induced by antiepileptic drugs (AEDs) are rarely reviewed and not frequently received attention by treating physicians compared to other adverse effects (e.g. endocrinologic, cognitive and metabolic). However, some are frequent and progressive even in therapeutic concentrations or result in permanent blindness. Although some adverse effects are non-specific, others are related to the specific pharmacodynamics of the drug.

Areas covered: This review was written after detailed search in PubMed, EMBASE, ISI web, SciELO, Scopus, and Cochrane Central Register databases (from 1970 to 2019). It summarized the reported ophthalmologic adverse effects of the currently available AEDs; their risks and possible pathogenic mechanisms. They include ocular motility dysfunctions, retinopathy, maculopathy, glaucoma, myopia, optic neuropathy, and impaired retinal vascular autoregulation. In general, ophthalmo-neuro- or retino-toxic adverse effects of AEDs are classified as type A (dose-dependent), type B (host-dependent or idiosyncratic) or type C which is due to the cumulative effect from long-term use.

Expert opinion: Ocular adverse effects of AEDs are rarely reviewed although some are frequent or may result in permanent blindness. Increasing knowledge of their incidence and improving understanding of their risks and pathogenic mechanisms are crucial for monitoring, prevention, and management of patients’ at risk.     

���۹�ȱ���޸������������ƶ�ʱ��̽��

??Objective    To investigate the effect of tooth movement at different time after the repair of alveolar bone defects. Methods    Defective alveolar bone model was established on one side in forty white rabbits??which were filled with bone meal and attached with Bio-Gide membrane as experiment sides. The other side was performed routine tooth extraction as control. Track the mandibular second molar in both sides respectively in 1 week??1 month??2 months and 3 months after operation. One month later??the distance between the mandibular second molar and third molar was measured with electronic vernier caliper in the experiment side and control side. The mandibular tissue was made paraffin section and hematoxylin eosin staining. Three views of the periodontal ligament in a third place of the mesial roots of the second molar was randomly chosen to count the total number of osteoclasts. Paired-t test analysis was made to evaluate the displacement of the mandibular second molar in experiment and control side??and to evaluate the number of osteoclasts in two side. Results    In Group 1w and Group 1 m??the displacement of the mandibular second molar in experiment group was smaller than that in the control side??P??0.05??. There was no statistical significance in Group 2 m and Group 3 m. The number of osteoclasts in the experiment side was less than the control group in Group 1 w and Group1 m??P??0.05??. No statistical significance in Group 2 m and Group 3 m was found. Conclusion    Orthodontic treatment can be performed two months after the repair of alveolar bone defects.     

胫前动脉踝上穿支皮瓣修复足踝部软组织缺损19例

目的探讨胫前动脉踝上穿支皮瓣修复足踝部软组织缺损的临床疗效。方法回顾性研究2018年4月至2019年6月采用胫前动脉踝上穿支皮瓣修复足踝部软组织缺损19例的资料,其中男11例,女8例;年龄为21~75岁,平均39岁。根据前踝上穿支皮瓣解剖学基础,按照足踝部软组织缺损大小和形状,在小腿下端前外侧设计并切取皮瓣转位修复创面。切取胫前动脉踝上穿支皮瓣面积为6.0 cm×5.0 cm^14.0 cm×8.0 cm,均为带蒂皮瓣转位。根据皮瓣成活、感染控制、弹性色泽、外观形态、供区瘢痕、皮肤感觉、患者认可等情况,对患者足踝部软组织缺损的修复情况进行综合评价。结果本组19例皮瓣全部成活,软组织缺损、肌腱、骨质及钢板外露均得以修复。供区均I期愈合。术后门诊随访2~16个月,皮瓣血运良好,颜色接近周围正常皮肤,臃肿不明显,患者对外观表示满意;供区皮片愈合良好,无明显增生、挛缩及溃疡,踝关节功能良好。结论胫前动脉踝上穿支皮瓣是修复足踝部软组织缺损较为理想的方法之一,手术操作简便,穿支较恒定,血供可靠,具有一定的临床应用价值。     

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.     

腮腺切除术中沿面神经总干顺行解剖面神经的效果及安全性

目的探讨腮腺切除术中应用沿面神经总干顺行解剖面神经的治疗效果及安全性。方法选取我院2016年2月至2019年3月收治的60例择期行腮腺切除术的患者,随机分为观察组与对照组各30例。对照组沿面神经总干逆行解剖面神经,观察组沿面神经总干顺行解剖面神经,观察两组患者术后1个月面神经功能及术后并发症发生情况。结果术后1个月,两组患者的面神经功能分级比较无统计学差异(P>0.05);观察组的术后并发症发生率为10.00%,明显低于对照组的33.33%(P <0.05)。结论临床行腮腺切除术中,沿面神经总干顺行解剖面神经可降低术后并发症发生率,值得推广。