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21.
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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冠状动脉瘘的诊治及新进展 总被引:2,自引:0,他引:2
冠状动脉瘘是一种罕见的冠状动脉畸形,绝大多数属于先天性畸形,极少数可由后天因素引起。由于冠状动脉血流向有关心腔、血管异常分流,导致引流部位负荷加重、瘘远端心肌缺血而引起相应临床症状。目前,绝大多数冠状动脉瘘已能由超声心动图明确诊断并可经内科介入技术或外科手术治愈。 相似文献
24.
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
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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
27.
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
28.
E. Merieau A. Al Najjar J.-M. Halimi M. Sacquépée H. Nivet Y. Lebranchu M. Büchler 《American journal of transplantation》2007,7(11):2634-2636
A 40-year-old man who had been on hemodialysis for 25 months due to familial juvenile hyperuricemic nephropathy (FJHN) received a kidney transplant. Biopsy of his native kidney had shown tubulo-interstitial nephropathy. Genetic analysis confirmed abnormal uromodulin expression due to a mutation in the exon 4 of the UMOD gene. He had multiple tophi on the day of transplantation, including some on his fingers. He received immunosuppressive treatment including polyclonal antilymphocyte antibodies, mycophenolate mofetil, steroids and cyclosporine and achieved excellent renal function, with serum creatinine at 13 mg/L on day 10 posttransplantation and 9.4 mg/L at 6 months. His uric acid excretion rate increased from 4.4% at day 2 posttransplantation to 7.7% 6 months after transplantation. The number and sizes of the tophi were reduced 3 months posttransplantation, and nearly disappeared at month 6. Serum uric acid level decreased slowly from 650 mumol/L before transplantation to 300 mumol/L. Reduction of tophi was probably due to the absence of the mutated UMOD gene in the transplanted kidney. 相似文献
29.
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
30.