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排序方式: 共有5113条查询结果,搜索用时 203 毫秒
71.
Claude Stoll Y. Alembick M. P. Roth 《American journal of medical genetics. Part A》2023,191(9):2312-2323
Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979–2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS. 相似文献
72.
腭裂术后语音的实验研究 总被引:2,自引:0,他引:2
王瑛 《天津医科大学学报》1999,5(2):63-66
提供一种易被患者接受、无害、科学客观的腭裂术后语音缺陷的诊断方法。方法:随机选择各种腭裂类型的腭裂术后患者47例,将其语音输入KAY7800语图仪,分析其语音特点和语图表现。结果:腭裂术后语音有3大语音特点和8类语图表现。3大语音特点是残缺、代偿和干扰;8类语图表现是辅音残缺、共振峰残缺、送气代偿、浊化代偿、喉塞代偿、鼻音干扰元音、鼻音干扰辅音和噪音干扰。结论:腭裂术后患者口腔内的能量不足是造成以上语音缺陷的主要原因。 相似文献
73.
新生儿唇腭裂危险因素的病例对照研究 总被引:3,自引:0,他引:3
目的探讨唇腭裂(CLP)的发病原因。方法采用1:1配对的方法,对90例唇腭裂患儿的母亲与非唇腭裂患儿的母亲进行了对照研究,调查范围包括母亲自身危险因素和环境中的危险因素两大方面。结果在所列的7种因素中,有6种因素表现出较高的危险度,依其危险度(OR值)大小排列为:孕期接触工业毒物(9.0),孕期使用某些化学药物(8.0),家中饲养猫、狗等宠物(6.0),父母近亲结婚(6.0),孕期内受病毒感染(4.5)和孕期内喷洒农药除草剂(4.0)。结论孕期内接触有害物质是CLP的重要致病因素。 相似文献
74.
d,l-Camphor was detected as a new inducer of hydroxylase in the liver musomes of female mice. After a 2-day inhalation of d,l-camphor, cyt. P-450 and the ethylumbelliferone dealkylase were increased by 250 per cent and the NADPH-cyt. P-450 reductase by 350 per cent. The product [NADPH-cyt. P-450 reductase activity × cyt. P450 concentration] was shown to be a suitable reference parameter for the ethylumbelliferone dealkylase activity in the liver musomes during the treatment with four different inducers. The relative dealkylase activity Q was much decreased during inhalation of cyclohexane or d,l-camphor.Obviously these two inducers preferably enhanced cyt. P-450 species with a low dealkylase activity. The Q-values were reproducible. Q was increased by 100 per cent during induction of a MC-sensitive mouse strain with 3-methylcholanthrene, but it was only moderately decreased by induction with phenobarbital. Corresponding to this, methylcholanthrene is known to selectively induce a cyt. P-448 with high dealkylase activity whereas phenobarbital is known to change the hydroxylase specificity in the liver musomes not very much. 相似文献
75.
Rathke's cleft cyst associated with hypophysitis: MRI 总被引:6,自引:0,他引:6
76.
目的:观察艾司洛尔在小儿腭裂手术中出现心动过速时的治疗效果。方法:30例腭裂手术病人,在手术中静脉滴注艾司洛尔10~30mg。结果:30例手术病人的心率都有不同程度的下降。结论:艾司洛尔在小儿腭裂手术中对心动过速具有显著疗效。 相似文献
77.
Era-Noël Garabedian Vincent Ducroz Gilles Roger Franoise Denoyelle 《The Laryngoscope》1998,108(6):899-902
Objective: To present the preliminary results of a new surgical procedure for posterior laryngeal cleft repair. Design: Retrospective study in an academic tertiary care center. Method: The study included three male patients (age at surgery, 2, 13, and 14 mo). One presented with severe aspiration and cyanotic attacks, the two others with aspiration and recurrent chest infections. The types of laryngeal clefts included complete cleft of the cricoid with varying degrees of tracheal involvement but not further than the first six tracheal rings. Associated malformations included one VATER syndrome, one esophageal atresia, and one tracheoesophageal fistula. Surgery was performed under general anesthesia with nasotracheaI intubation. A vertical anterior laryngofissure was performed. The mucosal margins of the clefts were incised and then repaired in two layers with polyglactin sutures. The original feature of this procedure was the interposition of a small piece of tibial periosteum between the two layers. This fascia graft is known to be strong and resistant in cleft palate surgery. Main Outcome Measure: Clinical and endoscopic follow-up was used for evaluation of results. Results: The three patients had successful laryngeal repair at a mean follow-up of 6 months (range, 4-14 mo). Conclusion: The anterior laryngofissure provides a good surgical access to the cleft. The interposition of tibial periosteum allows durability of the cleft repair. A longer follow-up is needed to confirm these preliminary results. A computed tomography scan study and a study on the rabbit are planned in order to evaluate the outcome of these periosteal grafts. 相似文献
78.
Velopharyngeal insufficiency (VPI) is a well recognized but rare complication of adenoidectomy. Twenty children with this condition were seen and assessed at Great Ormond Street Hospital between 1993 and 2000. The commonest aetiology was occult submucous cleft palate (n = 5) but there was a wide range of other causes. Two children with severe behavioural disorders and normal palates developed mild symptoms, an aetiology not previously reported. Only two children had a classical submucous cleft palate. Nine children required surgical intervention and three revision procedures. Of the 15 treated children for whom follow‐up data was available, 13 regained normal or near‐normal speech. Many cases of postadenoidectomy VPI was not foreseeable. Following referral to a specialist cleft unit, normal or near‐normal speech can be achieved in the majority with a combination of surgery and speech therapy. 相似文献
79.
80.
硅橡胶鼻假体用于唇裂继发鼻畸形术的护理 总被引:1,自引:0,他引:1
目的:探讨行硅橡胶鼻假体,矫正单侧唇裂继发鼻畸形术的护理.方法:通过延长鼻小柱,纠正鼻小柱和鼻中隔的偏斜,广泛游离患侧鼻翼软骨,分三点悬吊固定患侧鼻翼软骨,同期植入硅橡胶L型鼻假体整复单侧唇裂继发鼻畸形24例.结果:24例均一期愈合,随访3~12个月效果患者均满意.结论:采用硅橡胶L型鼻假体整复单侧唇裂继发鼻畸形,配合正确护理效果更佳. 相似文献