American journal of medical genetics. Supplement最新文献

Ultrastructure of the cells forming amyloid fibers in Alzheimer disease and scrapie. 阿尔茨海默病和痒病中形成淀粉样纤维细胞的超微结构。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370757

H M Wisniewski, A W Vorbrodt, J Wegiel, J Morys, A S Lossinsky

{"title":"Ultrastructure of the cells forming amyloid fibers in Alzheimer disease and scrapie.","authors":"H M Wisniewski, A W Vorbrodt, J Wegiel, J Morys, A S Lossinsky","doi":"10.1002/ajmg.1320370757","DOIUrl":"https://doi.org/10.1002/ajmg.1320370757","url":null,"abstract":"Ultrastructural, three-dimensional reconstruction of cells surrounding the amyloid star in classical plaques in Alzheimer disease (AD) and histochemical studies of the cells associated with the deposits of amyloid fibers in scrapie were carried out. These studies showed that in both diseases, the fibers appear within the smooth endoplasmic reticulum (ER) and infoldings of cytoplasmic membranes of microglia/macrophages. Additional information about the site of formation of the amyloid fibers derives from histochemical studies of the localization of nucleoside diphosphatase (NDPase) activity. In normal microglia, this enzyme is associated with smooth ER and cell membranes. In the cells that form amyloid fibers, the NDPase activity is associated with the newly formed amyloid fibers within the distended cisternae of ER and the finger-like cytoplasmic projections. In the center of the amyloid star, the NDPase activity disappears. The presence of NDPase-positive amyloid fibers in the same location, where the enzyme is found in non-amyloid-forming cells, further supports our conclusion that the microglia/macrophages are the source of amyloid deposits. These studies also show that in spite of the differences in the proteins that produce the amyloid fibers in AD and scrapie, in both diseases, the microglia/macrophages play a key role in amyloid formation.","PeriodicalId":77486,"journal":{"name":"American journal of medical genetics. Supplement","volume":"7 ","pages":"287-97"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.1320370757","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13122808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 84

Free proximal trisomy 21 in the mother and malformation syndrome in the son. 母亲游离近端21三体和儿子畸形综合征。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370736

F S Shabtai, A Schwartz, D Klar, J Hart, H Dar, E Kessler, I Halbrecht

引用次数: 5

Frequency of 47, +21 in cells of blood cultures from couples with habitual spontaneous abortion. 习惯性自然流产夫妇血培养细胞的频率为47，±21。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370738

A Smith, M Cohen, R Murray

引用次数: 0

Morphological and immunohistochemical study of Down syndrome thymus. 唐氏综合征胸腺形态学及免疫组织化学研究。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370745

L M Larocca, L Lauriola, F O Ranelletti, M Piantelli, N Maggiano, R Ricci, A Capelli

引用次数: 49

Seizures in patients with trisomy 21. 21三体患者的癫痫发作。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370758

C Romano, A Tiné, G Fazio, R Rizzo, R M Colognola, G Sorge, P Bergonzi, L Pavone

引用次数: 62

Observations on the visual-perceptual abilities and adaptive behavior in adults with Down syndrome. 唐氏综合征成人视知觉能力和适应行为的观察。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370761

N Saviolo-Negrin, S Soresi, C Baccichetti, G Pozzan, E Trevisan

引用次数: 6

Encomium and dedication: Angelo Serra--four decades in human and medical genetics. 赞扬和奉献:Angelo Serra——人类和医学遗传学的四十年。

American journal of medical genetics. Supplement Pub Date : 1990-01-01

G Neri, J M Opitz

引用次数: 0

Erythrocyte antioxidant system in Down syndrome. 唐氏综合症中的红细胞抗氧化系统。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370754

G Gerli, L Zenoni, G F Locatelli, R Mongiat, F Piattoni, G B Orsini, A Montagnani, M R Gueli, V Gualandri

引用次数: 29

Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers. 唐氏综合征免疫系统的过早衰老:B淋巴细胞、t淋巴细胞亚群和具有自然杀伤标记的细胞的改变。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370743

A Cossarizza, D Monti, G Montagnani, C Ortolani, M Masi, M Zannotti, C Franceschi

{"title":"Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers.","authors":"A Cossarizza, D Monti, G Montagnani, C Ortolani, M Masi, M Zannotti, C Franceschi","doi":"10.1002/ajmg.1320370743","DOIUrl":"https://doi.org/10.1002/ajmg.1320370743","url":null,"abstract":"Phenotype and proliferative ability of peripheral blood lymphocytes from 15 noninstitutionalized children affected with Down Syndrome (DS), in apparently good health, were studied and compared with those of 16 healthy control children of the same age. A complex derangement of all the major peripheral blood cell subsets, i.e., B cells, T cells, and natural killer (NK) cells, was present in DS children. A significant decrease of the absolute number of circulating lymphocytes, a marked and significant decrease of B lymphocyte absolute number and percentage, and dramatic modifications of the T-cell subsets were observed. The absolute number of CD4+ cells was significantly decreased, whereas CD8+ cells increased significantly in percentage but not in absolute number. A derangement of cells bearing markers associated with NK activity, such as CD57, CD16, and CD56, was observed. Among the most important alterations, the presence of a high number of CD57+, CD16- cells, of CD57+, CD8+ lymphocytes, and of CD3+, CD56+ lymphocytes was seen. Many of these alterations are similar to those characteristic of chromosomally normal subjects of advanced age. The hypothesis that the reduced thymic endocrine activity and the zinc deficiency characteristic of DS are responsible for the derangement of T and NK subsets is discussed.","PeriodicalId":77486,"journal":{"name":"American journal of medical genetics. Supplement","volume":"7 ","pages":"213-8"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.1320370743","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13304139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 113

Neuropathology of Down syndrome and Alzheimer disease. 唐氏综合症和阿尔茨海默病的神经病理学。

American journal of medical genetics. Supplement Pub Date : 1990-01-01 DOI: 10.1002/ajmg.1320370756

L C Cork

{"title":"Neuropathology of Down syndrome and Alzheimer disease.","authors":"L C Cork","doi":"10.1002/ajmg.1320370756","DOIUrl":"https://doi.org/10.1002/ajmg.1320370756","url":null,"abstract":"Patients with Down syndrome (DS) over 40 years of age, prematurely and consistently develop neurofibrillary tangles (NFT), intracytoplasmic inclusions of highly insoluble straight or paired helical 12-16 nm filaments, and senile plaques (SP) composed of abnormal neurites surrounding a core of beta amyloid. These two lesions occur in distributions similar to those seen in Alzheimer disease (AD). SP and NFT are detected also in some younger individuals with DS (10-30+ years) when immunocytochemical and/or silver staining techniques are used. Retrospective and prospective attempts to relate neuropathological lesions and clinical dementia in DS have produced conflicting results. Clinical evidence of dementia and large numbers of SP and NFT were not always concordant. The predictable and consistent appearance of the AD-like neuropathologic changes in DS provides an unusual opportunity to examine the sequential development of SP and NFT. By combining morphological, immunocytochemical, and morphometric techniques with molecular biological approaches, the evolution of the structural and chemical changes in DS and AD can be examined and their relationship to clinical deficits can be evaluated.","PeriodicalId":77486,"journal":{"name":"American journal of medical genetics. Supplement","volume":"7 ","pages":"282-6"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.1320370756","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13304731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 61