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排序方式: 共有6590条查询结果,搜索用时 31 毫秒
81.
Philipp Kasten Gerrit Schnöink Astrid Bergmann Maria Papoutsi Kerstin Buttler Jochen Rössler Herbert A. Weich Jörg Wilting 《Developmental dynamics》2007,236(10):2952-2961
Lymphangioma is a disfiguring malformation of early childhood. A mouse lymphangioma model has been established by injecting Freund's incomplete adjuvant (FIA) intraperitoneally, but has not been compared with the human disease. We show that, in accordance with studies from the 1960s, the mouse model represents an oil-granuloma, made up of CD45-positive leukocytes and invaded by blood and lymph vessels. Several markers of lymphatic endothelial cells are expressed in both mouse and human, like CD31, Prox1, podoplanin, and Lyve-1. However, the human disease affects all parts of the lymphovascular tree. We observed convolutes of lymphatic capillaries, irregularly formed collectors with signs of disintegration, and large lymph cysts. We observed VEGFR-2 and -3 expression in both blood vessels and lymphatics of the patients, whereas in mouse VEGFR-2 was confined to activated blood vessels. The experimental mouse FIA model represents a vascularized oil-granuloma rather than a lymphangioma and reflects the complexity of human lymphangioma only partially. 相似文献
82.
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients 总被引:7,自引:0,他引:7
We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, Polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25 % recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this. 相似文献
83.
Isolated adducted thumbs is an uncommon malformation that occurs sporadically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggested in two familial cases, but this mode of inheritance has not been confirmed. Here we describe a family with adducted thumbs and other digital anomalies in which seven members (six females and one male) are affected in three consecutive generations. Additionally, the patients showed mild abnormalities of fingers 2nd–4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an autosomal dominant condition that apparently has not been previously reported. 相似文献
84.
In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height. 相似文献
85.
Elizabeth Dubovsky Harry C. Dietz Felicitas Lacbawan 《American journal of medical genetics. Part A》2002,110(3):283-288
We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of Marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and Marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome. Published 2002 Wiley‐Liss, Inc. 相似文献
86.
The results obtained in 304 consecutive patients with spontaneous subarachnoid hemorrhage are described, the majority of whom (86%) were admitted while in acute condition. Only 46% of the patients in this series were in good condition at admission. The initial management was standardized for all patients, but the protocol of "delayed surgery" was applied to patients with subarachnoid hemorrhage from aneurysmal rupture. Two hundred and twenty-two patients (73%) had intracranial aneurysms. Of these, 20 (9%) were moribund and died shortly after admission; nine (4%) underwent emergency surgery due to the coexistence of a life-threatening cerebral hematoma; seven (3%) were operated upon within 3 days of admission; 78 (35%) died after rebleeding or after steady deterioration of the patient's condition due to vasospasm while awaiting surgery. Of the remaining 108 patients ready for delayed surgery, 12 (11%) (operation refused, elderly patients in poor general condition, spontaneous thrombosis of the aneurysm) were treated conservatively, and 96 (89%), who were in various clinical conditions, were actually operated on. Of these 96 patients, 79 (82%) exhibited excellent or good results, 5 (5%) were disabled, and 12 (12%) died. In the authors' experience, the overall management of intracranial aneurysms in unselected patients according to the protocol of delayed surgery results in significant loss of patients awaiting surgery, and good surgical results in the survivors. 相似文献
87.
I. Ferrer 《Acta neuropathologica》1984,65(1):69-76
Summary The cytoarchitectonics of the cerebral unlayered polymicrogyria located at the borders of a bilateral porencephalic defect is characterized by minute convolutions not exteriorized by sulci, in which blood vessels and increased numbers of fibrillary astrocytes are present in the fused molecular layers. The cellular organization, based on the analysis of Golgi sections, differs among gyral, intermediate, and sulcal regions and represents variable degree of cellular damage and structural organization of the cerebral mantle injured approximately in gestational month 5. Polymicrogyria may be produced by incomplete ischemia of radial territories vascularized by cortical blood vessels penetrating at right angles from the surface which is the result of the imbalance between the impaired cerebral blood flow of occluded large prerolandic arteries, responsible for the porencephalic defect, and the arterial meningeal anastomoses.Abnormal folding in polymicrogyria may be generated by lateral differences in the cortical thickness of adjoining areas, and by the imbalance in growth rates of laterally contiguous cortical regions.Dedicated to A. Gonzalez 相似文献
88.
刘介平 《中国医疗器械信息》2021,(7):84-84,137
目的:通过临床病例分析实时动态彩超在筛查胎儿中枢神经畸形中的诊断价值。方法:随机从在万年县中医院建档孕检实施彩超筛查病例300例,同一时间段先后实施二维彩超筛查及实时动态四维彩超筛查,定期随访至1周岁,观察胎儿降生后1年的神经发育表现,以比对两种筛查的准确率。结果:经实证研究得出,实时动态四维彩超诊断的准确率明显高于二维彩超,两者间差异显著(P<0.05)。结论:实时动态四维彩超在筛查胎儿中枢神经畸形中要优于二维彩超,可以作为应用实时动态四维彩超进行孕检的科学依据。 相似文献
89.
目的 :探讨孕妇弓形虫感染对胎儿的影响。方法 :采用酶免三联诊断法对 35 6例母婴配对标本进行血清学检测。结果 :产妇弓形虫感染率平均为 19 1% ,各单项检测分别为循环抗原 (CAg) 15 2 %、IgM2 5 %、IgG3 4% ;新生儿弓形虫感染率平均为 17 7% ,其脐血各单项检测分别为CAg16 9%、IgM0 3%、IgG2 2 %。CAg垂直传播率为 35 2 % ( 19/5 4)。 4例畸胎儿中 1例脐血弓形虫CAg阳性。结论 :孕妇感染弓形虫可通过胎盘垂直感染胎儿 ,应引起围产医务工作者的高度重视 ,加强对弓形虫感染的早期诊断和及时治疗 相似文献
90.
《Neuro-Chirurgie》2021,67(2):132-139
BackgroundMicro-arteriovenous malformations (micro-AVMs) are defined as AVMs just visible on angiography with a nidus size between 0.5 and 1 cm. Their principal manifestation is intracranial hemorrhage and their diagnosis and therapeutic management are still unclear.MethodsThe aim of our work was to show the clinical presentation, treatment and outcome of ruptured cerebral micro-AVMs in a retrospective cohort study of 19 patients and a systematic review of the literature.ResultsWe obtained a total of 20 micro-AVMs in 19 patients. The mean age was 47.3 years. Clinical presentation was acute bleeding. The mean volume of hematoma was 12.9 mm3 (0 - 60.4), with topographic distribution as follows: 64% cortical with supratentorial bleeding, 26% deep, and 10% in the posterior fossa. Among the 20 micro-AVMs of the series, 11 (55%) had endovascular management, 6 (30%) had surgical treatment and 3 (15%) had GK radiosurgery alone. All of our patients have been cured at the end of the follow up without re-permeabilization. In our series, clinical outcome showed good recovery with a mean score of 4.6 on Glasgow Outcome Scale (GOS). In the literature, 88% of patients had a GOS of 4 or 5.DiscussionIntracerebral hematoma (ICH) was the main clinical manifestation. In the case of negative initial angiographic assessment, patients must have supraselective angiographic exploration. In the case of conservative treatment of hematoma, endovascular obliteration and microsurgical exclusion seems to be reasonable therapeutic options, according to our observations. 相似文献