先天性肛门直肠畸形术后合并便秘患儿排便功能评定及病因探讨

目的便秘是先天性肛门直肠畸形(anorectal malformation,ARM)术后常见的并发症,其病理改变复杂,病因尚不清楚。本研究利用多种客观检查方法对ARM术后便秘患儿肛门直肠功能和神经功能进行评定,并对其病因进行探讨。方法利用同位素排便造影、直肠肛管测压、肌电图和肛门括约肌神经电生理等方法对49例ARM患儿和31例正常儿童的排便功能进行全面、系统和动态的评价,49例ARM患儿根据畸形位置分为中低位组和高位组,每组再根据是否发生便秘分出两个亚组,并对上述测量指标进行统计分析。结果同位素排便造影结果显示,ARM术后便秘组半排时间[中低位:(13.45±8.35)s;高位:(20.59±4.26)s]与术后无便秘组[中低位:(4.69±6.86)s;高位:(7.66±6.38)s]相比明显延长,ARM术后便秘组排空率[中低位:(29.35±14.84)s;高位:(33.00±9.04)s]与术后无便秘组[中低位:(61.70±23.01)s;高位:(60.31±30.38)s]相比明显降低,差异具有统计学意义(P<0.05)。直肠肛管测压检测结果显示,直肠感觉阈在所有ARM组中均明显高于正常组(P<0.05),ARM便秘组[中低位:(53.57±9.45)mL;高位:(57.50±9.14)mL]高于ARM无便秘组[中低位:(46.32±14.61)mL;高位:(47.27±8.76)mL]。ARM便秘组感觉收缩时间[中低位:(2.79±0.39)s;高位:(3.51±1.93)s]明显长于ARM无便秘组[中低位:(1.97±0.67)s;高位:(2.11±0.43)s],差异具有统计学意义(P<0.05)。肌电图结果显示,反映排便动力的痉挛指数在术后合并便秘组均明显高于未合并便秘组。神经电生理结果显示会阴-肛门反射潜伏期在ARM患儿组均明显延长,其中ARM合并便秘组[中低位:(66.04±16.20)ms;高位:(70.41±17.91)ms]延长更加明显,与ARM无便秘组[中低位:(38.51±16.92)ms;高位:(49.91±9.45)ms]相比存在统计学差异(P<0.05)。结论ARM术后便秘患儿直肠感觉功能和排便动力存在明显异常,其严重程度与支配盆底肌肉的神经功能异常有关。治疗前应进行详细、系统的肛门直肠和神经功能的客观检查,明确排便功能障碍的具体病因和病理改变。     

Spontaneous disappearance of brain arteriovenous malformation: A case series

ObjectiveBrain arteriovenous malformation (BAVM) is defined as abnormal communication between cerebral of arteries and veins, without capillaries. Clinically, it may involve intracranial hemorrhage or seizures. Complete spontaneous resolution, known as BAVM disappearance, has been reported in rare cases.MethodsWe retrospectively collated all cases of BAVM in Lille University Hospital, from 2005 to 2018, and identified all cases of spontaneous BAVM disappearance on angiography (nidus and early venous drainage).ResultsThere were 4 cases of spontaneous BAVM disappearance, in 3573 patients: i.e., prevalence of 0.1%. Sex ratio was 2:2; ages ranged from 14 to 46 years; nidus size was generally small (< 20 mm); 3 of the 4 patients had superficial venous drainage. Revelation of BAVM was by hemorrhage in 3 cases and by seizure in 1. There were no cases of recanalization at 1 year's follow-up.ConclusionSpontaneous BAVM disappearance is rare. Associated factors may include small nidus, superficial venous drainage and hemorrhage.     

胎儿-新生儿先天性肺囊腺瘤样畸形手术初步结果分析

目的总结胎儿及新生儿先天性肺囊腺瘤样畸形的手术情况,初步比较两种手术的治疗结果。方法回顾性分析我们于2009年1月至2014年12月收治的13例先天性肺囊腺瘤样畸形患儿临床资料,均采取产时子宫外手术或新生儿期手术,术后均获得病理检查证实。按照手术方式将患儿分为两组,即胎儿手术组(n=6)、新生儿手术组(n=7),比较两组治疗结果。结果13例均存活,胎儿手术组与新生儿手术组手术时胎龄分别为(38.00±1.44)周、(39.27±1.42)周,P=0.138;出生体重分别为(3 060.00±342.05)g、(3 354.29±312.78)g,P=0.133;手术出血量分别为(8.67±6.38)mL、(6.29±3.04)mL,P=0.396;术后呼吸机支持天数分别为(3.67±1.75)d、(2.57±1.13)d,P=0.201;术后住院天数分别为(18.33±9.20)d、(11.43±2.43)d,P=0.081;差异均无统计学意义。肿物大小比较,P=0.000[(124.82±40.70)cm~3 vs(23.76±5.84)cm~3];手术时间比较P=0.000,[(43.16±6.6)min vs(92.86±24.58)min],差异有统计学意义。结论产时子宫外处理技术可以作为治疗高风险的先天性肺囊腺瘤样畸形的方法之一,但手术风险大,操作复杂,需多学科合作,把握手术适应证,谨慎选择。     

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic–pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic–pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated.     

基层医院开展胎儿超声心动图筛查的作用分析

目的:探讨基层医院开展胎儿超声心动图筛查的作用。方法:选取2017年1月—2019年6月在北京市昌平区妇幼保健院建档并进行胎儿超声心动图筛查的孕妇10763例,其中10117例产后行新生儿超声心动图筛查,对产前检查出心脏异常病例转诊,与产前诊断机构诊断结果、生后新生儿超声心动图筛查结果、尸检及手术结果进行对比,并对常规扫查切面进行回顾性分析、讨论。结果:经产前超声心动图5切面法筛查出胎儿心脏异常共136例,确诊134例,诊断准确率98.5%(134/136),检出率1.2%(134/10763),漏诊1例,为完全型肺静脉异位引流。误诊2例,1例主动脉弓曲折误诊为主动脉弓离断;1例正常心脏误诊为主动脉缩窄。结论:基层医院常规开展规范化胎儿超声心动图筛查,对及早发现并诊断先天性心脏病具有重要的临床价值。     

Aortic Coarctation: Basic Imaging Findings and Management

Coarctation of the aorta (CoA) is a common congenital disease associated with narrowing of the descending aorta. CoA is an arteriopathy that can be associated with other congenital heart and systemic defects and therefore requires vigilant and continuous management and screening even after correction. Advancements in imaging have revolutionized the way CoA is diagnosed and managed. In this article, the authors review CoA and its management, with a focus on the various imaging modalities used for diagnosis and screening of CoA and its associated malformations.     

双侧颈动脉畸形合并假性动脉瘤介入治疗1例报告

双侧颈总动脉发育异常、左侧颈总动脉先天性闭锁、右侧颈外动脉在颈内外分杈处形成假性动脉瘤临床罕见。作者收治1例,经CT血管成像及DSA确诊,动脉造影术后假性动脉瘤体积明显增大,出现呼吸困难、呛咳、声音嘶哑、头晕、头痛等症状。将覆膜支架放至右侧颈动脉分杈处行介入治疗,成功地封堵假性动脉瘤,保持颈内动脉通畅,瘤体不显影。治疗随访14个月,无并发症发生,肿瘤未复发。     

颌骨动静脉畸形的治疗

目的：总结颌骨动静脉畸形的诊断、治疗的经验。方法：7例颌骨动静脉畸形病例先行CT或MRI检查，了解颌骨破坏情况，7例均行栓塞治疗，栓塞材料为PVA颗粒(250～500um)，栓塞后一周内进行手术，切除颌骨病变组织。结果：7例经PVA栓塞，异常血管团块消失、搏动、杂音消失、软组织肿胀得到改善。口内渗血及动脉出血得到控制。手术后随访，无1例复发。结论：血管造影栓塞后行手术切除病变组织是治疗颌骨动静脉畸形有效而可靠的治疗方法。