Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The objective of this study was to evaluate the piglet as a suitable animal model for human diseases of high altitude. We studied 12 piglets, 4-10 weeks old, in a hypobaric chamber under conditions of high altitude at a pressure of 1/2 atmosphere (to approximately 320 Torr) for various periods of time (12, 24, 36, 48, and 72 hours) with continuous monitoring. The animals were decompressed every 24 hours for grooming and feeding. Two animals were studied as nonexposed controls, and one was studied as a control in the chamber without decompression. The animals were euthanized after the exposure, and a complete autopsy was performed. The tissues were then analyzed with light and electron microscopy. The animals all exhibited clinical features of ataxia, tachypnea with Cheyne-Stokes respiration, and lethargy. One animal vomited. The histologic and ultrastructural analysis showed normal organs, particularly lung and brain. The piglet may be a suitable animal model for the study of high altitude-related diseases in humans, but prolonged uninterrupted exposure and a delay in euthanasia after exposure to high altitude may be necessary for the development of reactive pathologic changes.
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PMID:The piglet as an animal model for hypobaric hypoxia. 1199 Jan 83

Immunoglobulin class switch recombination (Ig CSR) involves DNA double strand breaks (DSBs) at recombining switch regions and repair of these breaks by nonhomologous end-joining. Because the protein kinase ataxia telengiectasia (AT) mutated (ATM) plays a critical role in DSB repair and AT patients show abnormalities of Ig isotype expression, we assessed the role of ATM in CSR by examining ATM-deficient mice. In response to T cell-dependent antigen (Ag), Atm-/- mice secreted substantially less Ag-specific IgA, IgG1, IgG2b, and IgG3, and less total IgE than Atm+/+ controls. To determine whether Atm-/- B cells have an intrinsic defect in their ability to undergo CSR, we analyzed in vitro responses of purified B cells. Atm-/- cells secreted substantially less IgA, IgG1, IgG2a, IgG3, and IgE than wild-type (WT) controls in response to stimulation with lipopolysaccharide, CD40 ligand, or anti-IgD plus appropriate cytokines. Molecular analysis of in vitro responses indicated that WT and Atm-/- B cells produced equivalent amounts of germline IgG1 and IgE transcripts, whereas Atm-/- B cells produced markedly reduced productive IgG1 and IgE transcripts. The reduction in isotype switching by Atm-/- B cells occurs at the level of genomic DNA recombination as measured by digestion-circularization PCR. Analysis of sequences at CSR sites indicated that there is greater microhomology at the mu-gamma1 switch junctions in ATM B cells than in wild-type B cells, suggesting that ATM function affects the need or preference for sequence homology in the CSR process. These findings suggest a role of ATM in DNA DSB recognition and/or repair during CSR.
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PMID:Immunoglobulin class switch recombination is impaired in Atm-deficient mice. 1550 20

A 77-year-old female developed vertigo and dysarthria. Two months later, she was hospitalized with disorientation and ataxia. CSF showed increased levels of NSE, 14-3-3 protein and tau. EEG demonstrated periodic synchronous discharges (PSD). Brain MRI showed abnormal high intensity areas in the cerebral cortices, especially in the occipital lobes, putamen and caudate nucleus bilaterally, on DWI. Genetical analysis of prion protein revealed no specific mutation. She was diagnosed as having sporadic Creutzfeldt-Jakob disease (CJD). Cheyne-Stokes respiration (CSR) had been observed since an early stage, and decreased 5 months later coincident with attenuation of myoclonus and PSD. We should also pay attention to CSR in the diagnosis of CJD, although the complication is rare.
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PMID:[Cheyne-Stokes respiration appeared in an early stage of the disease in a patient with Creutzfeldt-Jakob disease]. 2396 58