48例先天性食道闭锁手术后并发症的分析

目的回顾性分析48例先天性食道闭锁术后并发症的防治,以提高食道闭锁术后生存率。方法总结17年来广东省某医院对食道闭锁术后并发症防治的经验,分析并发症与生存率的关系。结果 48例食道闭锁经手术后总治愈和好转率为67%,其中Ⅲ型治愈和好转率达到75%,术后出现的主要并发症依次是肺炎、吻合口狭窄、吻合口瘘、硬肿症和胃食道返流。结论加强术前术后的管理,积极预防和治疗并发症是提高手术后存活率的关键。     

新生儿先天性食管闭锁合并食道气管瘘高频震荡通气？…

目的 总结一年多来先天性食管闭锁９例术后高频震荡通气治疗的效果。方法 对９例合并肺炎患儿均在术后使用高频震荡呼吸机通气治疗,加强呼吸、循环功能监测,并根据血气分析等结果调整参数,及早发现并治疗合并症。结果 ９例中治愈７例（７７．８％）,死亡１例（１１．１％）,放弃１例,高频震荡通气过程中无一例合并气胸,合并吻合口狭窄和吻合口瘘及肺不张分别１例。结论 高频震荡通气可促进食管闭锁术后患儿肺炎吸收,减少     

7例先天性食道闭锁手术失败原因分析

目的总结分析先天性食道闭锁手术失败的经验教训。方法回顾分析我院先天性食道闭锁手术失败病例7例，其中4例采用经胸腔食管吻合术，3例采用经胸膜外食道吻合术。结果3例死于吻合口瘘，2例死于呼吸功能衰竭，1例死于肺炎硬肿症，1例死于食道气管瘘复发。结论经胸膜外手术并发症少，围手术期监护和手术方式技巧是减少并发症、提高成活率的关键。     

先天性多发性消化道闭锁

先天性多发性消化道闭锁苏州医学院附属儿童医院（２１５００３）肖志辉先天性多发性消化道闭锁（ｃｏｎｇｅｎｉｔａｌｍｕｌｔｉｐｌｅｇａｓｔｒｏｉｎｔｅｓｔｉｎａｌａｔｒｅｓｉａ，ＣＭＧＡ）是一组较为罕见的先天性遗传性疾病，其典型表现为自食道至直肠的整个消...     

新生儿先天性食道闭锁伴气管食管瘘一例

病例：患儿男,生后20min,围生期新生儿。胎龄32“周,第2胎第2产,因母亲胎盘早剥剖宫产出,出生体重1．43kg。生后无窒息,羊水少,脐带无异常。因生后反应差、体温不升20min入院。查体：体温不升。反应差,哭声微弱。早产儿貌。前囟1．5cm×1．5cm,平软,张力不高。口周轻度发绀。双肺呼吸音粗,闻及湿性罗音。     

先天性肛门闭锁伴有尾儿1例

病例 :患儿男性 ,胎龄 39w ,剖宫产娩出 ,无窒息 ,出生体重 2 95 0 g。即刻查体 :一般情况好 ,面色红润 ,呼吸平稳 ,心肺(— ) ,腹略膨隆 ,无肠型及蠕动波 ,肝右肋下 1.5cm ,质软边锐 ,四肢无异常。正常肛门位置处无肛门 ,有色素沉着 ,刺激无收缩。在骶尾部位有一小尾巴 ,长约 1.5cm ,根部直径约0 .7cm ,质软 ,内无骨头 ,小尾肤色同正常肤色。外生殖器正常。辅助检查 :倒立位腹部正侧位片示直肠盲端距肛门标志物 1.74cm ,小尾内无骨骼组织。其母年龄 2 9岁 ,G4P3,此次患妊娠合并糖尿病 ,用胰岛素治疗过。曾于 6年前孕 7+ 月早产一女婴 ,体…     

先天性十二指肠隔膜型闭锁1例

先天性十二指肠隔膜型闭锁是一种极少见的先天性疾病,本文报道1例经手术和病理证实的病例.     

先天性食管闭锁1例

先天性食管闭锁是常见的消化道畸形之一,发病率较低,该病要求早期诊断,及时手术治疗,否则预后不佳。我院收治先天性食管闭锁1例,现将具体情况报告如下。1临床资料患儿,男,G3P2,母孕32周,经阴道分娩10 min后入院,患儿口中吐沫,唇发绀,可见三凹征,双肺闻及散在啰音。临床怀疑吸入性肺炎或肺透明膜病。行X线检查示(图1a):双肺透亮     

先天性食管闭锁患儿的围手术期护理

目的总结先天性食管闭锁(EA)患儿围手术期护理经验及教训.方法分析27例EA患儿的护理监护过程.结果手术患儿68.4%近期疗效较好,术后出现液胸3例,食管气管残余瘘1例,气胸1例,术后放弃治疗死亡1例,因肺出血、呼吸循环衰竭死亡2例.结论对EA患儿术前改善呼吸功能,稳定内环境,是提高手术效果的保证;术后加强气道护理及肺部理疗,是手术成败的关键之一.     

先天性食管闭锁患儿的围手术期护理

目的　总结先天性食管闭锁 (EA)患儿围手术期护理经验及教训 .方法　分析 2 7例EA患儿的护理监护过程 .结果　手术患儿 6 8.4 %近期疗效较好 ,术后出现液胸 3例 ,食管气管残余瘘 1例 ,气胸 1例 ,术后放弃治疗死亡1例 ,因肺出血、呼吸循环衰竭死亡 2例 .结论　对EA患儿术前改善呼吸功能 ,稳定内环境 ,是提高手术效果的保证 ;术后加强气道护理及肺部理疗 ,是手术成败的关键之一 .     

小儿先天性支气管闭锁的MSCT诊断

目的分析小儿先天性支气管闭锁及其合并其他先天畸形的CT表现,加强对本病的认识,提高诊断准确率。回顾性分析19例小儿先天性支气管闭锁的螺旋CT征象,肺部常规5mm层厚扫描,在16层螺旋CT行0．8mm后处理重组,记录病变的特点及其周围组织改变。结果19例病例CT均能显示粘液栓及周围大叶性肺气肿改变,其中8例粘液栓内含气液平,9例合并有漏斗胸,1例伴右肾缺如及脊柱侧弯畸形（椎体及肋骨多发畸形）,1例伴有右下腹肠系膜淋巴管瘤。结论粘液栓及周围先天性大叶性肺气肿是其典型表现,其伴发的其他畸形在一定程度上可促进我们对本病的认识,提高诊断准确率。     

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, EFTUD2-mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed-up at the Necker-Enfants Malades Hospital over a 10-years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9/148, 6%); EA with Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL) or VACTERL/Oculo-Auriculo-Vertebral Dysplasia (VACTERL/OAV) (22/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non-Mendelian genetic models.     

围生期先天性心脏病的发生趋势及产前诊断

目的为了解围生期先天性心脏病（简称先心病）的发生趋势及产前诊断情况,为制定预防干预措施提供依据。方法选择2家市级医院于2003年10月至2006年9月对医院出生的孕28w至产后7天的围生儿包括活产儿、死胎、死产和治疗性引产儿进行先心病及相关因素监测。结果2003年10月至2006年9月共监测围生儿29589例,发现先心病351例,平均发生率为11．86‰,围生期先心病的发生率呈逐年上升趋势（χ^2=29．32,P〈0．01）,性别发生率无统计学意义。孕母年龄t〉30岁组的围生期先心痛发生率明显增加,尤其年龄≥35岁组（χ^2=24．73,P〈0．01）。351例先心病儿中产前诊断20例,占5．97％,主要类型为室间隔缺损伴心脏其它畸形、法洛四联症、完全性房室通道、大血管错位、永存动脉干与左心发育不良等,其中治疗性引产19例。结论开展围生期先心病监测及病因研究,减少先心病的发生,对提高出生人口素质和儿童生存质量有重要意义。重视母亲孕前与孕期干预工作,对有高危因素的孕妇尽早在孕28w前进行产前诊断,提高胎儿心脏超声诊断水平是目前提高先心病早期诊断的关键。     

Congenital bronchial atresia: diagnosis and treatment

This study aimed to retrospectively summarize the clinical signs, diagnosis, and treatment of congenital bronchial atresia (CBA) in 12 patients. Chest radiographs and computed tomographic (CT) images of 12 patients with CBA treated in the Chinese People's Liberation Army General Hospital were reviewed. Analysis of chest radiographs revealed ten patients had hilar mass-like shadows and two had pneumonia-like shadows; most patients (n = 8) showed hyperlucency of the peripheral lung fields. CT revealed a mucocele in all the patients (n = 12); the mucoceles were round in four patients and club-like in eight. In 80% of the cases (n = 10), associated anomalies, including occlusions of the bronchus central to the mucocele, emphysematous changes of the peripheral lung fields, bronchogenic cyst, and anomalous branching of the bronchial tree and vascular structure were observed. CBA was detected in the right lobe in eight patients and the left lobe in the remaining four. No surgical intervention was performed in 5 CBA patients and the remaining 7 patients underwent surgery, including lobectomy in 5 patients and local resection in 2 patients. Among these 7 patients, 3 had a preoperative diagnosis of malignant disease, and the remaining 4 had severe clinical symptoms that could not be effectively treated by medicines. All patients were followed up, and none experienced obvious discomfort. CBA is a relatively rare and benign malformation disease. Chest CT is the procedure of choice for diagnosis. The presence of a bronchocele and surrounding emphysematous changes are typical radiologic findings in CBA. Surgery should be reserved only for patients with serious complications secondary to the atretic bronchus.     

Association of anophthalmia and esophageal atresia

We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other had generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a developmental field. Concurrence of these defects appears to be non-random. © 1995 Wiley-Liss, Inc.     

Associated malformations in patients with esophageal atresia

Esophageal atresia is a common type of congenital malformation. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with esophageal atresia, we conducted this study in a geographically well-defined population, evaluating the birth prevalence of esophageal atresia and associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 99 patients with esophageal atresia, 46 (46.5%) had associated malformations. These included patients with chromosomal abnormalities (8 patients, 8%); non-chromosomal recognized syndromes (4 patients), including one each CHARGE syndrome, Fanconi anemia, Fryns syndrome, and Opitz G/BBB syndrome; associations including VACTERL (10 patients), and one schisis; one oculo-auriculo-vertebral spectrum; one malformation complex, a sirenomelia, and non-syndromic multiple congenital anomalies (MCA) (21 patients, 21%). Malformations of the cardiovascular system (24%), urogenital system (21%), digestive system (21%), musculoskeletal system (14%), and central nervous system (7%) were the most common other congenital malformations occurring in patients with esophageal atresia and non-syndromic MCA. We observed a high prevalence of total malformations and specific patterns of malformations associated with esophageal atresia which emphasizes the need to evaluate all patients with esophageal atresia for possible associated malformations. The malformations associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 25 out of 46 patients (54%).     

Bilateral microphthalmia,esophageal atresia,and cryptorchidism: The anophthalmia-esophageal-genital syndrome

We report on a male infant with bilateral microphthalmia, esophageal atresia, and cryptorchidism. To our knowledge only 4 cases with a similar combination of congenital abnormalities have been previously reported, and it is likely that this represents a distinct entity. We suggest the name “anophthalmia-esophageal-genital-syndrome.” Am. J. Med. Genet. 70:171–173, 1997. © 1997 Wiley-Liss, Inc.     

Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21

The Antley-Bixler syndrome (ABS) is characterized by craniofacial, skeletal and urogenital anomalies. While most patients with ABS die of severe respiratory complications in their first months, long-term survivors have been reported. We report an infant girl, born to a consanguineous couple, with craniofacial and skeletal anomalies, consistent with ABS, in addition to atresia of the esophagus and trisomy 21.