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131.
Dementia is characterized clinically by progressive cognitive decline, often with impairment of memory. The pathology of dementias is either focal as with infarcts in Vascular Dementia or diffuse as typified by Alzheimer's disease. In many cases of Alzheimer's disease there is a mixture of focal infarcts and diffuse changes. Diffuse pathology in dementias comprises mainly intracellular and extracellular protein deposits. Intracellular inclusions are of tau protein (Alzheimer's disease; and some frontotemporal dementias), alpha-synuclein (Dementia with Lewy bodies) and huntingtin (Huntington's disease). Soluble and insoluble peptides also accumulate in the extracellular spaces of brain parenchyma in dementias with diffuse pathology, mainly amyloid-beta (Abeta) in parenchymal plaques and in artery walls as cerebral amyloid angiopathy (Alzheimer's disease and Dementia with Lewy bodies). Insoluble prion protein (PrP) is deposited in brain parenchyma in Creutzfeldt-Jakob disease and other insoluble amyloid peptides accumulate in brain and vessel walls infamilial dementias. The pattern of extracellular deposits in brain and artery walls suggests that there is a failure of elimination of peptides, such as Abeta along perivascular interstitial fluid drainage pathways ("lymphatics") from the aged brain and in Alzheimer's disease. Such failure may be due to reduced pulsations as arteries stiffen with age and cerebrovascular disease. Immunization against Abeta removes insoluble deposits of Abeta from brain parenchyma and may allow improved clearance of soluble Abeta. Reducing cerebrovascular disease and facilitating elimination of Abeta along perivascular drainage routes may offer long-term preventative measuresfor both Vascular Dementia and for Alzheimer's disease. 相似文献
132.
Induction of epithelial-mesenchymal transition in alveolar epithelial cells by transforming growth factor-beta1: potential role in idiopathic pulmonary fibrosis 总被引:3,自引:0,他引:3
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Willis BC Liebler JM Luby-Phelps K Nicholson AG Crandall ED du Bois RM Borok Z 《The American journal of pathology》2005,166(5):1321-1332
133.
Alicia Bach Jingyi Mi Matthew Hunter Benjamin J. Halliday Sixto García-Miaúr Francesca Sperotto Eva Trevisson David Markie Ian M. Morison Marwan Shinawi Daniel N. Willis Stephen P. Robertson 《European journal of human genetics : EJHG》2021,29(3):396
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.Subject terms: Genetics, Clinical genetics, Disease genetics 相似文献
134.
Sid E O'Bryant John A Lucas Floyd B Willis Glenn E Smith Neill R Graff-Radford Robert J Ivnik 《Archives of clinical neuropsychology》2007,22(3):327-332
The influence of education on cognition has received a great deal of attention in the literature. Although there is general consensus regarding the importance of education on cognitive functioning, the extent to which self-reported level of education corresponds to true educational attainment remains unclear, especially in ethnic minority populations where equal access to education has not always been available. Several investigators have suggested that reading skill may serve as a quantitative estimate of true education experience. Among African-Americans, however, research has shown that self-reported educational level consistently over predicts estimated reading level. The current study analyzed the discrepancy between self-reported years of education completed and estimated reading level in a sample of community-dwelling, elderly African-Americans participating in Mayo's Older African Americans Normative Studies (MOAANS) (Lucas, J.A., Ivnik, R.J., Willis, F.B., Ferman, T.J., Smith, G.E., Parfitt, F.C., Petersen, R.C., & Graff-Radford, N.R. (2005). Mayo's Older African Americans Normative Studies: Normative data for commonly used clinical neuropsychological measures. The Clinical Neuropsychologist, 19, 162-183). In this sample, 29% of the participants read at a level that was 3 or more years below what would be expected based on self-report of education attained. This study also sought to evaluate the extent to which this discrepancy fluctuated as a function of demographic variables such as location of schooling (urban, suburban, rural; North vs. South), parental education and literacy, and percentage of segregation in schooling. Implications of these results are discussed, as are areas for further inquiry. 相似文献
135.
Allen NJ Káradóttir R Attwell D 《Pflügers Archiv : European journal of physiology》2004,449(2):132-142
A dysfunction of amino acid neurotransmitter transporters occurs in a number of central nervous system disorders, including stroke, epilepsy, cerebral palsy and amyotrophic lateral sclerosis. This dysfunction can comprise a reversal of transport direction, leading to the release of neurotransmitter into the extracellular space, or an alteration in transporter expression level. This review analyses the role of glutamate and GABA transporters in the pathogenesis and therapy of a number of acute and chronic neurological disorders. 相似文献
136.
137.
Antidromic activity was recorded in anesthetized rats from single afferent fibers in the proximal ends of cut dorsal root filaments at the L(4-6) level and tested for responses to acute cutaneous inflammation produced by intradermal injection of capsaicin. This antidromic activity included low-frequency spontaneous firing and dorsal root reflex (DRR) discharges evoked by applying von Frey hairs to the skin of the foot. DRRs could be recorded from both small myelinated (Adelta) and unmyelinated (C) afferent fibers, as well as from large myelinated (Abeta) fibers. After capsaicin was injected intradermally into the plantar skin of the foot, a significant enhancement of DRR activity was seen in Adelta and C fibers but not in Abeta fibers, and this increase lasted for approximately 1 h. This study supports the hypothesis that centrally mediated antidromic activity in Adelta and C primary afferent fibers contributes to the development of neurogenic inflammation, presumably by release of inflammatory substances in the periphery. 相似文献
138.
139.
Convergent inputs from articular,cutaneous and muscle receptors onto ascending tract cells in the cat spinal cord 总被引:2,自引:0,他引:2
H. -G. Schaible R. F. Schmidt W. D. Willis 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1987,66(3):479-488
Summary 1.Responses were recorded from 160 ascending tract cells in segments L4 to L6 of the spinal cord in chloralose anaesthetized, spinalized cats. The tract cells were identified by antidromic activation following stimulation of pathways in the lateral and ventral funiculi at the level of the spinal cord transection at the thoracolumbar junction. Axonal conduction velocities ranged from 9 to 114 m/s. 2. A sample of 152 of the neurones examined could be subdivided according to the distribution of their receptive fields into 49 cells activated just from receptors located in skin (s cells), 17 neurones excited by receptors in deep tissues (d cells), 15 units with a convergent input from receptors in skin and deep tissues (sd cells), and 25 neurones with a convergent input from the knee joint and either skin (sj cells), deep tissues (dj cells) or both (sdj cells). No receptive fields could be demonstrated for the remaining 46 neurones. 3. S and sj cells were found almost exclusively in the dorsal horn, whereas many d, sd, sdj and dj units were in the ventral horn. Almost all of the cells that lacked receptive fields were in the ventral horn or intermediate grey. 4. Ninety-one of 158 cells (56%) demonstrated no background activity. Of these, 43 cells (27%) lacked receptive fields. Many of the silent neurones were in the ventral horn, but some were in the dorsal horn. Of 25 cells having knee joint input, 18 (72%) had background activity. 5. All of the neurones that had a receptive field in the knee joint also had a convergent input from receptors in other tissues. In 3 cases, there was a receptive field in the skin over the foot (sj cells). For 16 cells, receptive fields included not only the knee joint but also skin and deep tissue (sdj cells). Usually, the cutaneous receptive field was near the knee joint, but sometimes it was remote, such as on the foot. The deep receptive fields were chiefly in the muscles of the thigh and/or leg. For 6 dj cells, the receptive fields included not only the knee joint but also deep fields like those of sdj cells. 6. Cutaneous receptive fields were classified as low threshold (cells excited best by innocuous intensities of mechanical stimulation), wide dynamic range (cells activated by weak mechanical stimuli, but the best responses were to noxious stimuli) or high threshold (innocuous stimuli had little effect, but noxious mechanical stimuli produced a vigorous discharge). Similarly, stimulation of the knee joint with weak mechanical stimuli could excite some neurones, while others could be activated by weak or strong articular stimuli but were excited best by noxious stimuli, and still other neurones were activated by knee joint stimuli only if the intensity was noxious. 7. In several instances, contralateral receptive fields were noted. These were generally in deep tissue or in the knee joint. 8. It was concluded that many of the responses to articular stimulation of the spinal cord ascending tract cells examined in this study could have been mediated by the fine afferent fibres that supply the knee joint. Although further work will be required to determine which particular ascending tracts transmit nociceptive information concerning the knee joint, it can be proposed that many of the responses demonstrated here were likely to play a role in either joint pain of in triggering responses associated with joint pain. 相似文献
140.
Virginia P. Johnson Willis C. Sutliff 《American journal of medical genetics. Part A》1994,52(2):184-187
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) wiht verification using DNA in situ hybridization. © 1994 Wiley-Liss, Inc. 相似文献