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11.
Heather R. Nolan Juan Gurria Jose L. Peiro Sammy Tabbah Ramiro Diaz-Primera William Polzin Mounira Habli Foong-Yen Lim 《Journal of pediatric surgery》2019,54(6):1153-1158
PurposeCongenital high airway obstruction syndrome (CHAOS) is a devastating fetal condition of complete airway discontinuity resulting in significant hydrops and extreme lung hyperplasia. It is universally fatal with survival reported only in the rare spontaneous fistulization or EXIT intervention (Ex Utero Intrapartum Treatment). Even in these cases, mortality remains high, and current investigations are targeting prenatal interventions. This report describes our experience with management and fetal interventions for CHAOS, including laser laryngotomy.MethodsWe retrospectively reviewed all patients diagnosed with CHAOS at a single academic institution between 2006 and 2017.ResultsFifteen patients were identified. Eight had obstruction at the trachea and seven at the larynx. In the laryngeal obstructions, three expired shortly after birth, and one survived after spontaneous fistulization and subsequent EXIT to tracheostomy. The remaining three underwent in-utero treatment with laser laryngotomy. One had preterm premature rupture of membranes (PPROM), delivered 3 days post-operatively, and died. Two underwent EXIT to tracheostomy with one surviving to discharge and is currently 2 years old.ConclusionOur study demonstrates the outcomes of a large series of patients diagnosed with CHAOS. While mortality remains high, options for fetal intervention are being explored to allow alterations in the prenatal natural history and improve postnatal outcomes.Type of StudyRetrospective Treatment Study.Level of EvidenceLevel IV. 相似文献
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目的:检测神经纤维瘤蛋白在先天性脊柱侧凸患者成骨细胞和软骨细胞中的表达。方法:6例先天性脊柱侧凸患者,在后路手术时取髂骨及髂骨生长板,分离、培养成骨细胞和软骨细胞,分别行碱性磷酸酶染色和甲苯胺蓝染色。逆转录-多聚酶链反应(RT—PCR)检测神经纤维瘤蛋白mRNA.间接免疫荧光和Westemblot检测神经纤维瘤蛋白在成骨细胞和软骨细胞中的表达。结果:先天性脊柱侧凸患者成骨细胞和软骨细胞中存在Ⅱ型神经纤维瘤蛋白表达,该蛋白主要分布在细胞浆,所表达蛋白为三磷酸鸟苷酶活化蛋白(GAP)活性较弱的Ⅱ型异构体。结论:先天性脊柱侧凸患者成骨细胞和软骨细胞中存在神经纤维瘤蛋白表达,但该蛋白是否通过对成骨细胞和软骨细胞的影响导致骨骼系统异常还有待于进一步研究。 相似文献
14.
Two hundred and thirty pregnancies were studied in 196 diabetic women. Seven women with babies found to have major malformations had a higher median first trimester haemoglobin A1 (12.9%) than the median HbA1 (10.8%) in those with normal babies (p = 0.06). No relationship was found between the occurrence of minor malformations and first trimester maternal haemoglobin A1. Two of the seven congenital malformations were diagnosed antenatally at a time when therapeutic abortion could be offered. Expert antenatal ultrasound scanning should be offered to all pregnant diabetic women as poor glycaemic control at the time of conception and organogenesis, as evidenced by raised first trimester HbA1, predisposes to congenital malformation. 相似文献
15.
Murat Hamit Aytar Fikret Doğulu Berker Cemil Ertan Ergün Gökhan Kurt Kemali Baykaner 《Child's nervous system》2007,23(6):719-721
Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine,
and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence.
This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as
anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders,
diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal
atresia.
Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term
survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think
that this patient presents a mild form of iniencephaly. 相似文献
16.
风疹易感人群婚前风疹疫苗接种预防先天性风疹综合征 总被引:1,自引:0,他引:1
目的探讨婚前风疹易感人群风疹疫苗接种在提高孕妇对风疹的免疫力,预防先天性风疹综合征中的作用.方法对10 913例婚前风疹病毒抗体IgG阴性者给予国产风疹减毒活疫苗注射.3个月随防671例,比较风疹疫苗接种前后该地区孕妇近期风疹感染的发病率.结果818例风疹病毒抗体IgG阴性者接种后抗体转阳率为99.8%.风疹疫苗接种前后3年孕妇近期风疹感染率分别为0.37%及0.08%,有明显下降,有非常显著差异(P<0.001).结论应用国产风疹减毒活疫苗对婚前易感人群作预防接种可提高育龄妇女对风疹的免疫力,降低孕期风疹感染的发生率,是预防先天性风疹综合征及风疹致畸的有效、安全措施. 相似文献
17.
18.
小儿先天性髋关节脱位近年来应用术式的演变及其评估 总被引:5,自引:2,他引:3
本文介绍本院近4年来小儿先天性髋脱位治疗应用术式的演变。由20多年来一直喜欢用骨盆截骨术演变为近1年来用得最多的是造盖术。近4年共手术463例,565髋。实践证明:比起骨盆截骨术,造盖术显得更简便,侵袭小,不需二次手术拔除内固定针。因在我国大龄髋脱位偏多,造盖术更适合我国国情。经过一些改进,可以克服造盖折断和吸收问题。 相似文献
19.
先天性输精管缺如患者生育问题的研究 总被引:1,自引:0,他引:1
自1988年至1991年共收治25例先天性输精管缺如患者,在20例行手术诊治术中15例用自体睾丸精索鞘膜制成人工精池囊,5例又在囊内放置用微涤纶制成的异质管。术中抽吸10例附睾内精子进行快速活化,其中5例活化成功,行人工授精,结果2例怀孕,1例已生育一女孩。认为该症是有生育可能的,但需要解决3个问题:(1)采用显微外科技术把附睾内部活着的精子取出一定数量;(2)选配好快速活化剂使精子快速活化成功;(3)用患者的精浆培养自己的精子。建议对梗阻性无精子症在用手术疏通精路的同时可以采用快速活化精子技术行人工授精,以提高生育的效果。 相似文献
20.
Hong Kwan Kim Young Tae Kim Sook Whan Sung June Dong Park Chang Hyun Kang Joo Hyun Kim Yong Jin Kim 《European journal of cardio-thoracic surgery》2004,25(6):1065-1071
Objectives: Congenital tracheal stenosis is a rare disease. Various methods for treatment exist but there is still much debate as to the appropriate surgical procedure. We present our surgical experiences of patch tracheoplasty and slide tracheoplasty as viable methods for the treatment of congenital tracheal stenosis. Methods: From 1994 to 2002, 13 patients were diagnosed with congenital tracheal stenosis. Eight patients (7 symptomatic and 1 asymptomatic) had their stenosis corrected, three by means of pericardial patch tracheoplasty, four by slide tracheoplasty, and one by resection and anastomosis. Concomitant operations were performed on six patients to treat congenital cardiovascular disease. Five patients showing no significant symptoms did not undergo tracheal surgery and received only cardiac procedures. A retrospective review of the hospital course, complications, and long-term results was conducted. Results: Among the patch tracheoplasty group, every patient suffered from granulation tissue formation. One patient died of respiratory acidosis and one was hospitalized due to recurrent granulation tissue, which required frequent bronchoscopy. The third patient from this group is free of all symptoms. Among the slide tracheoplasty group, one patient died of anastomosis disruption. The three remaining patients are alive and well. The one patient who received resection and anastomosis is alive without symptoms. Conclusions: Surgical repair of long-segment congenital tracheal stenosis exhibited high mortality and morbidity rates. Every patient that underwent pericardial patch tracheoplasty suffered from troublesome granulation tissue. As slide tracheoplasty provided relatively good results in the short and mid-term follow-up periods, it seems to be a preferred method for the treatment of long-segment congenital tracheal stenosis. 相似文献