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排序方式: 共有467条查询结果,搜索用时 0 毫秒
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Randomized controlled study comparing the efficacy of rapid and slow withdrawal of antiepileptic drugs during long‐term video‐EEG monitoring 下载免费PDF全文
454.
Myra PS Leung BOptom Benjamin Thompson DPhil BSc Joanna Black PhD BOptom BSc Shuan Dai FRANZCO Jane M Alsweiler PhD FRACP MBChB 《Clinical & experimental optometry》2018,101(1):4-12
Children born very preterm are at a greater risk of abnormal visual and neurological development when compared to children born at full term. Preterm birth is associated with retinopathy of prematurity (a proliferative retinal vascular disease) and can also affect the development of brain structures associated with post‐retinal processing of visual information. Visual deficits common in children born preterm, such as reduced visual acuity, strabismus, abnormal stereopsis and refractive error, are likely to be detected through childhood vision screening programs, ophthalmological follow‐up or optometric care. However, routine screening may not detect other vision problems, such as reduced visual fields, impaired contrast sensitivity and deficits in cortical visual processing, that may occur in children born preterm. For example, visual functions associated with the dorsal visual processing stream, such as global motion perception and visuomotor integration, may be impaired by preterm birth. These impairments can continue into adolescence and adulthood and may contribute to the difficulties in learning (particularly reading and mathematics), attention, behaviour and cognition that some children born preterm experience. Improvements in understanding the mechanisms by which preterm birth affects vision will inform future screening and interventions for children born preterm. 相似文献
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456.
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews 总被引:10,自引:1,他引:10
Nestorowicz A; Wilson BA; Schoor KP; Inoue H; Glaser B; Landau H; Stanley CA; Thornton PS; Clement JP th; Bryan J; Aguilar-Bryan L; Permutt MA 《Human molecular genetics》1996,5(11):1813-1822
Familial hyperinsulinism (HI) is a disorder of pancreatic beta-cell
function characterized by persistent hyperinsulinism despite severe
hypoglycemia. To define the molecular genetic basis of HI in Ashkenazi
Jews, 25 probands were screened for mutations in the sulfonylurea receptor
(SUR1) gene by single-strand conformation polymorphism (SSCP) analysis of
genomic DNA and subsequent nucleotide sequence analyses. Two common
mutations were identified: (I) a novel in-frame deletion of three
nucleotides (nt) in exon 34, resulting in deletion of the codon for F1388
(delta F1388) and (II) a previously described g-->a transition at
position-9 of the 3' splice site of intron 32 (designated 3992-9g-->a).
Together, these mutations are associated with 88% of the HI chromosomes of
the patients studied. 86Rb+ efflux measurements of COSm6 cells
co-expressing Kir6.2 and either wild-type or delta F1388 SUR1 revealed that
the F1388 mutation abolished ATP-sensitive potassium channel (KATP)
activity in intact cells. Extended haplotype analyses indicated that the
delta F1388 mutation was associated with a single specific haplotype
whereas the 3992-9g-->a mutation was primarily associated with a single
haplotype but also occurred in the context of several other different
haplotypes. These data suggest that HI in Ashkenazi Jews is predominantly
associated with mutations in the SUR1 gene and provide evidence for the
existence of at least two founder HI chromosomes in this population.
相似文献
457.
The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region 总被引:9,自引:3,他引:9
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459.
Defects in hemostasis in P-selectin-deficient mice 总被引:14,自引:4,他引:14
Subramaniam M; Frenette PS; Saffaripour S; Johnson RC; Hynes RO; Wagner DD 《Blood》1996,87(4):1238-1242
Recently, our laboratory showed that platelets, like leukocytes, roll on activated endothelium expressing P-selectin, thus suggesting a role for P-selectin in hemostasis (Frenette et at, Proc Natl Acad Sci USA 92:7450, 1995). We report here that the P-selectin--deficient mice show a 40% prolongation of the bleeding time on amputation of the tip of the tail. Moreover, defective hemostasis was observed in a local Shwartzman- like reaction induced by skin injections of lipopolysaccharide followed by tumor necrosis factor-alpha in the P-selectin--deficient mice. The hemorrhagic lesions, quantitated both macroscopically and microscopically, were twofold larger in the P-selectin--deficient mice. This was also confirmed by measuring the radioactivity in the skin using chromium-labeled red blood cells. Therefore, it is evident that P- selectin plays a role in hemostasis as suggested by its support of platelet rolling. 相似文献
460.
青藏高原东部地区发现的新种: 石渠棘球绦虫的生物学特征 总被引:1,自引:0,他引:1
青藏高原东部是细粒棘球绦虫和多房棘球绦虫的混合流行区,诸多的家畜和野生动物参与了棘球绦虫的传播。近年来,一种未知的棘球绦虫先后从高原鼠兔(Ochotona curzoniae)和藏狐(Vulpes ferrilata)中被分离出来。由于其特有的形态学、分子遗传学、寄生宿主和地理分布特征,而被作为新种 ——— 石渠棘球绦虫(Echinococcus shiquicus,Xiao et al,2005)进行了系统研究。本文对该虫种的生物遗传学和流行病学特征进行了讨论,并提出了理论上的假设来解释一些仍不十分清楚的现象。 相似文献