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排序方式: 共有391条查询结果,搜索用时 0 毫秒
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Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample 总被引:3,自引:0,他引:3
Faraone SV Skol AD Tsuang DW Bingham S Young KA Prabhudesai S Haverstock SL Mena F Menon AS Bisset D Pepple J Sautter F Baldwin C Weiss D Collins J Keith T Boehnke M Tsuang MT Schellenberg GD 《American journal of medical genetics》2002,114(6):598-604
Several prior reports have suggested that chromosomal region 13q32 may harbor a schizophrenia susceptibility gene. In an attempt to replicate this finding, we assessed linkage between chromosome 13 markers and schizophrenia in 166 families, each with two or more affected members. The families, assembled from multiple centers by the Department of Veterans Affairs Cooperative Studies Program, included 392 sampled affected subjects and 216 affected sib pairs. By DSM-III-R criteria, 360 subjects (91.8%) had a diagnosis of schizophrenia and 32 (8.2%) were classified as schizoaffective disorder, depressed. The families had mixed ethnic backgrounds. The majority were northern European-American families (n = 62, 37%), but a substantial proportion were African-American kindreds (n = 60, 36%). Chromosome 13 markers, spaced at intervals of approximately 10 cM over the entire chromosome and 2-5 cM for the 13q32 region were genotyped and the data analyzed using semi-parametric affected only linkage analysis. For the combined sample (with race broadly defined and schizophrenia narrowly defined) the maximum LOD score was 1.43 (Z-score of 2.57; P = 0.01) at 79.0 cM between markers D13S1241 (76.3 cM) and D13S159 (79.5 cM). Both ethnic groups showed a peak in this region. The peak is within 3 cM of the peak reported by Brzustowicz et al. [1999: Am J Hum Genet 65:1096-1103]. 相似文献
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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
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Hannah Reemtsma Cora M. Holicki Christine Fast Felicitas Bergmann Martin Eiden Martin H. Groschup Ute Ziegler 《Viruses》2022,14(6)
West Nile virus (WNV) is an emerging infectious pathogen circulating between mosquitoes and birds but also infecting mammals. WNV has become autochthonous in Germany, causing striking mortality rates in avifauna and occasional diseases in humans and horses. We therefore wanted to assess the possible role of free-ranging poultry in the WNV transmission cycle and infected 15 goslings with WNV lineage 2 (German isolate). The geese were monitored daily and sampled regularly to determine viremia, viral shedding, and antibody development by molecular and serological methods. Geese were euthanized at various time points post-infection (pi). All infected geese developed variable degrees of viremia from day 1 to day 10 (maximum) and actively shed virus from days 2 to 7 post-infection. Depending on the time of death, the WN viral genome was detected in all examined tissue samples in at least one individual by RT-qPCR and viable virus was even re-isolated, except for in the liver. Pathomorphological lesions as well as immunohistochemically detectable viral antigens were found mainly in the brain. Furthermore, all of the geese seroconverted 6 days pi at the latest. In conclusion, geese are presumably not functioning as important amplifying hosts but are suitable sentinel animals for WNV surveillance. 相似文献
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Ute Schuppler Felicitas Planas-Bohne David M. Taylor 《International journal of radiation biology》2013,89(3):457-466
SummaryFollowing intravenous injection into male Sprague–Dawley rats 233Pa, like other elements, deposits predominantly in the skeleton (ca. 70–80 per cent), but unlike Pu and Am the liver deposition of 233Pa is low, about 2–3 per cent between 1 and 7 days. About 99 per cent of the injected 233Pa is lost from the plasma compartment in 3 days, a clearance comparable to that of Pu but much slower than that of Np, Am or Cm. On entering the liver cell cytosol 233Pa is bound rapidly to an unidentified protein of molecular mass 200 kDa and to a protein of 80 kDa, which is probably transferrin. Within a few hours the metal migrates to bind to a protein of > 400 kDa which has been tentatively identified as ferritin. Some 233Pa remains bound to small ligands until virtually all the intracellular 233Pa has been deposited in the lysosomes, or to a lesser extent in some other, as yet, unidentified organelles. 相似文献
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Wiedenmann Felicitas Becker Fabian Eichberger Marlis Stawarczyk Bogna 《Clinical oral investigations》2021,25(3):1011-1018
Clinical Oral Investigations - To test the polymerization stress of nine self-adhesive resin composite cements (G-CEM, iCEM, Bifix SE, Maxcem Elite, PANAVIA SA, SoloCem, SmartCem 2, SpeedCEM, RelyX... 相似文献
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Pfefferle Regina Lümkemann Nina Wiedenmann Felicitas Stawarczyk Bogna 《Clinical oral investigations》2020,24(1):395-403
Clinical Oral Investigations - To test the impact of polishing strategies on zirconia properties. One hundred eight zirconia specimens were divided into nine groups (n = 12/group).... 相似文献