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猫α-甘露糖苷贮积症的临床和病理异质性。

The clinical and pathologic heterogeneity of feline alpha-mannosidosis.

作者信息

Cummings J F, Wood P A, de Lahunta A, Walkley S U, Le Boeuf L

机构信息

Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, Ithaca 14853.

出版信息

J Vet Intern Med. 1988 Oct-Dec;2(4):163-70. doi: 10.1111/j.1939-1676.1988.tb00311.x.

Abstract

Three Domestic Long-haired cats from a litter of five afflicted with alpha-mannosidosis (alpha-mannosidosis) were studied clinically and pathologically. Many of these findings contrasted with those made previously in kittens with deficiency of alpha-mannosidase. In these cats, the clinical signs were generally milder, more slowly progressive, and did not include the prominent skeletal deformities, ocular abnormalities, or hepatomegaly that were reported in prior studies of Persian and Domestic Short-haired kittens. While the Domestic Long-haired cats were spared the central nervous system (CNS) myelin deficiency, which was severe in the Persian but mild in the Domestic Short-haired cats, the extensive loss of Purkinje cells in their cerebellar cortices was without precedent. Additionally, ultrastructural study of the neuronal cytosomes showed a diversity not recorded in the earlier cases. The observed phenotypic heterogeneity was sufficient enough to consider separating feline alpha-mannosidosis into severe, acute and milder, chronic forms in a manner analogous to the Type I and Type II distinctions made in infants and juveniles.

摘要

对一窝五只患α-甘露糖苷贮积症(α-mannosidosis)的家猫长毛猫中的三只进行了临床和病理研究。这些发现中有许多与先前对缺乏α-甘露糖苷酶的小猫的发现形成对比。在这些猫中,临床症状通常较轻,进展较慢,并且不包括先前对波斯猫和家猫短毛猫幼崽研究中所报道的明显骨骼畸形、眼部异常或肝肿大。虽然家猫长毛猫没有中枢神经系统(CNS)髓磷脂缺乏症,这种缺乏症在波斯猫中很严重,而在家猫短毛猫中较轻,但它们小脑皮质中浦肯野细胞的大量丧失却是前所未有的。此外,对神经元胞体的超微结构研究显示出一种在早期病例中未记录到的多样性。观察到的表型异质性足以考虑将猫α-甘露糖苷贮积症分为严重的急性形式和较轻的慢性形式,其方式类似于在婴儿和青少年中所做的I型和II型区分。

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