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31.
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
32.
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
33.
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
34.
35.
为探讨孕妇乙型肝炎病毒(HBV)感染和某些因素对先天性畸形的致病作用,本文进行了96对新生儿先天畸形的配对(1:1)病例对照研究,报道先天畸形的频率和构成,单因素和多因素的条件Logistic回归分析,表明孕妇HBsAg阳性等6个因素对先天畸形呈阴性结果,而与接触农药和孕周的因素有明显联系,值得进一步探讨。 相似文献
36.
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
37.
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
38.
目的 通过普查深圳市公务员先天性白内障的现状 ,分析影响先天性白内障患病因素 ,探讨有效的防治措施。 方法 在 2 0 0 3年参加深圳市保健中心健康人群体检 ,2 0岁以上的约 3万名公务员中 ,按 3 :1比例随机抽取93 40人调查。按照先天性白内障诊断及分类标准 ,分析年龄、性别、职业的相关性 ,并进行显著性检验。 结果 深圳市公务员先天性白内障总发病率为 0 86% (80 /93 40 ) ,其中男性为 0 87% (4 0 /5 0 40 ) ,女性为 0 84% (3 6/4 3 0 0 ) ,男性高于女性 (P <0 0 5 ) ,职业无明显差异 (P <0 0 5 )与家族史有关。 结论 先天性白内障病发展缓慢 ,发现困难 ,应作为常规体检项目 ,减少遗传病儿出生。 相似文献
39.
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
40.
Results of the Ross operation in a pediatric population 总被引:1,自引:0,他引:1
Mark G. Hazekamp Heynric B. Grotenhuis Paul H. Schoof Marie E.B. Rijlaarsdam Jaap Ottenkamp Robert A.E. Dion 《European journal of cardio-thoracic surgery》2005,27(6):975-979
Objective: To analyse the results of the mid-term clinical and echocardiographic follow-up of the pediatric Ross operation. Methods: Echo-Doppler follow-up of 53 consecutive pediatric Ross procedures performed between 1994 and 2003. Median age was 9.7 years at time of operation (2 weeks–17.7 years). Six patients were younger than 3 months. Median age at follow-up was 15.6 years. Aortic valve/left ventricular outflow tract (LVOT) anomalies were congenital in 49 (92%). Seventy percent had previous surgery or balloon valvuloplasty. Root replacement was used in all. Thirteen patients (25%) had LVOT enlargement. Mean cross-clamp time was 113 (69–189) minutes. Results: Early mortality occurred in 3 patients after emergency surgery following balloon failure (n=1) and extended Ross following interrupted arch/VSD repair (n=2). Late mortality was due to LV fibroelastosis in 2 patients and complicated pulmonary artery stenting in another. RVOT reoperations were required because of late homograft obstruction in 2 patients and because of pulmonary artery stenosis in another. Five patients (9.4%) were reoperated for pulmonary autograft dilatation (n=3) and for leaflet fibrosis or perforation (n=2). Autografts were repaired in two patients, while a mechanical valve was inserted in 3 cases. At 9 years the actuarial survival and event free survival were 89 and 74%, respectively. At last follow-up 90% of autograft diameters indexed to body surface area was above the 90th percentile of normal aortic root diameters. LVOT and RVOT gradients were low and autograft insufficiency was trivial to mild in 84% and mild to moderate in 16%. Autograft stenosis was not noticed. Conclusions: The pediatric Ross procedure remains an important tool but autograft dilatation also occurs in the pediatric population. The significance of this finding has yet to be determined. 相似文献