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61.
先天性心脏病患儿肺动脉,上腔静脉血一氧化氮含量检测及意义 总被引:1,自引:1,他引:0
目的:探讨一氧化氮(NO)与先天性心脏病(CHD)引起的肺动脉高压(PH)发病间的关系。方法:应用NO试剂盒检测了CHD患儿肺动脉及上腔静脉血浆中NO含量。结果;(1)伴PH组肺动脉血浆NO含量明显高于不伴肺动脉高压组(37.58±9.99μmol/L:19.03±15.25μmol/L,P<0.01);(2)在PH组中,肺动脉血浆NO含量明显高于上腔静脉血(P<0.01);而不伴PH组,肺动脉和上腔静脉血浆NO含量无显著性差异(P>0.05)。结论:(1)伴PH的先心患儿肺动脉血浆NO含量升高;(2)NO可能介入了CHD引起的PH发病过程。 相似文献
62.
Berend H. F. Sombekke Willemina M. Molenaar Anthonie J. van Essen Coen J. F. Schoots 《Fetal and pediatric pathology》1994,14(2):277-285
Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited. 相似文献
63.
Cohen syndrome: fertility in a female patient 总被引:1,自引:0,他引:1
In this report we describe fertility in an adult female with Cohen syndrome. She gave birth to a son, now 1.5 years old, with discrete facial stigmata and slight psychomotor retardation. 相似文献
64.
Yasuyuki Kato Satoru Miyamoto Hirokazu Minamimura Takumi Ishikawa Kensuke Ohue Yoshihiro Shimizu 《The Japanese Journal of Thoracic and Cardiovascular Surgery》2005,53(1):46-48
In embryology, a persistent connection of the left superior vena cava to the left atrium rarely coexists with a coronary sinus.
We herein report an unusual case of persistent left superior vena cava terminating in a left atrium with normal coronary sinus,
which was revealed at the time of permanent pacemaker implantation after a second operation for recurrent left atrioventricular
valve regurgitation. Because this anomaly had gone undiagnosed at the first operation, we were unable to diagnose it prior
to the second operation, because the preoperative coronary angiogram clearly demonstrated a coronary sinus that was not dilated.
We would have repaired the anomaly using a patch or other procedure had it been diagnosed before the second operation in order
to prevent cyanosis or brain complications secondary to right-to-left shunting. One should always be on guard for this rare
condition. 相似文献
65.
J Dissemond D Haberer T Franckson U Hillen 《Journal of the European Academy of Dermatology and Venereology》2004,18(5):611-613
The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits. These congenital lip pits appear clinically as a malformation in the vermilion border of the lip, with or without excretion. As a genetic defect has been identified as a microdeletion of chromosome bands 1q32-q41, genetic counselling of patients may be considered. A nonsense mutation in the interferon regulatory factor-6 (IRF-6) is discussed as a pathogenic relevant factor. Therapeutic intervention is generally not necessary, although surgical excision is especially indicated in patients with recurrent inflammation. Physicians should be aware of the Van der Woude syndrome because it has been reported to be associated with a variety of malformations or other congenital disorders. 相似文献
66.
目的:探讨MRI对先天性胆脂瘤的诊断价值。方珐:回顾性分析7例经手术病理证实的先天性胆脂瘤的MRI表现,7例均为脑外型,其中6例胆脂瘤位于桥小脑角区,l例胆脂瘤位于脊髓内.结果:先天性胆脂瘤的绝大多数MRI表现为T1WI呈低信号,T2WI呈高信号,信号欠均匀,且病灶具有“见缝就钻”的特点。增强扫描,病灶无强化,但如合并感染可有轻度强化。结论:MRI的表现及特殊序列FLAIR、SPIR像的相互补充应用对先天性胆脂瘤的诊断及鉴别诊断具有重要意义。 相似文献
67.
F. J. B. Sampaio 《Urological research》1992,20(4):271-274
Summary The growth of fetal kidney volume was studied in 290 specimens taken from 145 fresh human fetuses (85 males and 60 females) with gestational age ranging from 13 to 36 weeks postconception (WPC). Normative equations and curves of the growth of renal volume were obtained for male and female fetuses and for the whole sample in the second trimester (13–24 WPC) and in the third trimester (25–36 WPC) of gestation. There was no difference between the growth in volume of the right and left kidneys. Fetal kidney volume increases with a more intense rhythm in the early fetal period (13–24 WPC). During the second trimester, there was no difference between the values for renal volume of male and female fetuses. In the third trimester, male fetuses had renal volumes significantly greater than the female fetuses. The normative parameters of renal volume could have practical applications in detection and monitoring of renal anomalies in fetal and perinatal urology.Supported by grants 302, 369/86.4/BM-FV from the National Conucil of Scientific and Technological Development (CNPq, Brazil) and Grant E.29/170.787/89 from the Rio de Janeiro Foundation for Research Support (FAPERJ). 相似文献
68.
Mark Warner George Eapen George W. Vetrovec 《Catheterization and cardiovascular interventions》1992,25(2):148-150
We describe a patient with two separate vessels having different origins supplying the circumflex coronary artery distribution. This represents a previously undescribed coronary artery anomaly. 相似文献
69.
应用细胞遗传学和皮纹分析方法对142例先天性智能发育不全患儿进行了研究。其中,120例正常核型,22例异常核型。异常核型46,XY,t(1;3;21)(1pter→1q32.1∶∶21p11.2→21qter;3 qter→3p26.2∶∶1 q32.1→1 qter)和45,X/45,X,-22,+der(22)t(Y;22)(22qter→22p11.1∶∶Yq11.1→Yq11.2)两种核型国内尚未见报道。皮纹分析结果表明56.7%的患者有1项以上异常皮纹;染色体异常患者均有2项以上异常皮纹;先天愚型患者有“特定”的皮纹改变。 相似文献
70.
Two cases of bipartite tarsal navicular bone are presented. The radiographic and computed tomography (CT) findings of this anatomical variant are described. Correct recognition of this entity is important, both because it may be the cause of symptoms perse, and because it may be misdiagnosed as a fracture. When plain films are not diagnostic, CT scanning is helpful in distinguishing between a fracture and this variant. 相似文献