| 1. |
- Hedera, P., et al.
(author)
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Spastic paraplegia, ataxia, mental retardation (SPAR) : A novel genetic disorder
- 2002
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In: Neurology. - : American Academy of Neurology. - 0028-3878 .- 1526-632X. ; 58:3, s. 411-416
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Journal article (peer-reviewed)abstract
- Objective: To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation.Methods: Neurologic examinations and molecular genetic analysis (exclusion of known SCA and HSP genes and loci; and trinucleotide repeat expansion detection [RED]) were performed in six affected and four unaffected subjects in this family. MRI, electromyography (EMG), and nerve conduction studies were performed in three affected subjects.Results: The phenotype of this dominantly inherited syndrome varied in succeeding generations. Pure spastic paraplegia was present in the earliest generation; subsequent generations had ataxia and mental retardation. MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7. Analysis of intergenerational differences in age at onset of symptoms suggests genetic anticipation. Using RED, the authors did not detect expanded CAG, CCT, TGG, or CGT repeats that segregate with the disease.Conclusions: The authors describe an unusual, dominantly inherited neurologic disorder in which the phenotype (pure spastic paraplegia or spastic ataxia with variable mental retardation) differed in subsequent generations. The molecular explanation for apparent genetic anticipation does not appear to involve trinucleotide repeat expansion.The spinocerebellar ataxias (SCA) and hereditary spastic paraplegias (HSP), although clinically heterogeneous, typically are discerned as distinct syndromes: insidiously progressive ataxia of SCA typically is distinct from the insidiously progressive spastic gait disturbance of HSP.1-5⇓⇓⇓⇓ We identified a kindred with a unique, dominantly inherited neurologic disorder with features of both HSP and spastic ataxia. The most remarkable feature was the observation that different individuals exhibited different phenotypes within this family. Whereas affected members of the oldest generations exhibited pure spastic paraplegia, affected members in the younger generations exhibited cerebellar ataxia, lower extremity spasticity, and variable mental retardation and subtle dystonia. We designate this novel Spastic Paraplegia, Ataxia, mental Retardation syndrome as SPAR. In this report, we describe the clinical features of this SPAR index family and present our findings supporting that SPAR is genetically distinct from known forms of autosomal dominant HSP and SCA and is not caused by an expanded trinucleotide repeat.
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| 2. |
- Berg, Sören, et al.
(author)
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Proinflammatory cytokines increase the rate of glycolysis and adenosine-5'-triphosphate turnover in cultured rat enterocytes
- 2003
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In: Critical Care Medicine. - 0090-3493 .- 1530-0293. ; 31:4, s. 1203-1212
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Journal article (peer-reviewed)abstract
- Objective: Measurements of steady-state adenosine-5'-triphosphate (ATP) levels in tissue samples from patients or experimental animals with sepsis or endotoxemia provide little information about the rate of ATP production and consumption in these conditions. Accordingly, we sought to use an in vitro "reductionist" model of sepsis to test the hypothesis that proinflammatory cytokines modulate ATP turnover rate. Design: In vitro "reductionist" model of sepsis. Setting: University laboratory. Subjects: Cultured rat enterocyte-like cells. Interventions: IEC-6 nontransformed rat enterocytes were studied under control conditions or following incubation for 24 or 48 hrs with cytomix, a mixture of tumor necrosis factor-a (10 ng/mL), interleukin-1ß (1 ng/mL), and interferon-? (1000 units/mL). To measure ATP turnover rate, ATP synthesis was acutely blocked by adding to the cells a mixture of 2-deoxyglucose (10 mM), potassium cyanide (8 mM), and antimycin A (1 µM). ATP content was measured at baseline (before metabolic inhibition) and 0.5, 1, 2, 5, and 10 mins later. Log-linear ATP decay curves were generated and the kinetics of ATP utilization thereby calculated. Measurements and Main Results: ATP consumption rate was higher in cytomix-stimulated compared with control cells (3.11 ± 1.39 vs. 1.25 ± 0.66 nmol/min, respectively, p < .01). Similarly, the half-time for ATP disappearance was shorter in cytomix-stimulated compared with control cells (2.63 ± 1.00 vs. 6.21 ± 3.49, p < .05). In contrast to these findings, the rate of ATP disappearance was similar in cytokine-naïve and immunostimulated IEC-6 cells when protein and nucleic acid synthesis were inhibited by adding 50 µg/mL cycloheximide and 5 µg/mL actinomycin D to cultures for 4 hrs. The rates of glucose consumption and lactate production were significantly greater in cytomix-stimulated compared with controls cells. Conclusions: Incubation of IEC-6 cells with cytomix significantly increased ATP turnover. Increased ATP turnover rate was supported by increases in the rate of anaerobic glycolysis. These findings support the view that proinflammatory mediators impose a metabolic demand on visceral cells. In sepsis, cells may be more susceptible to dysfunction on the basis of diminished oxygen delivery and/or mitochondrial dysfunction.
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| 3. |
- Koitzsch, A., et al.
(author)
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Core-hole screening response in two-dimensional cuprates : A high-resolution x-ray photoemission study
- 2002
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In: Physical Review B Condensed Matter. - : American Physical Society. - 0163-1829 .- 1095-3795. ; 66:2
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Journal article (peer-reviewed)abstract
- We have studied the core level photoemission spectra of the two-dimensional cuprates Sr2CuO2Cl2, Sr2CuO2Br2, Ca2CuO2Cl2, Bi2Sr2CaCu2O8+δ, and Nd2CuO4, with particular focus on the screening response to core-hole creation in the Cu−2p3/2 level. The influence of the apex positions on the shape of the so-called main line is investigated, and found to be weak. Additionally, an Anderson impurity model was used to fit the shape of the main lines, obtaining good agreement with the data from Nd2CuO4. For the other compounds, while the energy spread of the two screening channels (local and nonlocal) is well reproduced, the theory underestimates the width of the nonlocally screened feature. The shapes of the main lines are discussed in detail.
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| 4. |
- Pfeiffer, K, et al.
(author)
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A comparison of thermally and photochemically cross-linked polymers for nanoimprinting
- 2003
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In: Microelectronic Engineering. - 1873-5568. ; 67-8, s. 266-273
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Journal article (peer-reviewed)abstract
- The characteristics and benefits of two types of cross-linking prepolymers with low glass transition temperature (T-g) for nanoimprinting are reported. They are soluble in organic solvents and their solutions can be processed like those of common thermoplastics. The imprinted patterns receive high thermal and mechanical stability through cross-linking polymerization. The course of the polymerization was investigated to determine the appropriate conditions for the imprint process. In thermally cross-linked polymers mr-I 9000, the cross-linking occurs during imprinting. Process time and temperature depend on the polymerization rate. Volume shrinkage during the polymerization does not adversely affect imprinting. Photochemically cross-linked polymers mr-L 6000 make possible imprint temperatures below 100 T and short imprint times. The T-g of the prepolymer determines the imprint temperature. The cross-linking reaction and structural stabilization is performed after imprinting. 50-nm trenches and sub-50-nm dots confirm the successful application of the polymers.
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| 5. |
- Pfeiffer, K, et al.
(author)
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Polymer stamps for nanoimprinting
- 2002
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In: Microelectronic Engineering. - 1873-5568. ; 61-2, s. 393-398
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Journal article (peer-reviewed)abstract
- Stamp fabrication for nanoimprinting can be significantly simplified, when specialized crosslinking polymers are applied to pattern definition. The polymer patterns can be used as stamps themselves. Two possibilities are reported: (1) An e-beam sensitive resist was developed, which enables the fabrication of polymer-on-silicon stamps. Patterns with a feature size of 70 nm could be created. (2) Full plastic stamps were obtained by a casting-moulding technique, which enable pattern transfer from any conventional mould. The quality of the two stamp variants were proved by imprinting experiments. (C) 2002 Elsevier Science B.V. All rights reserved.
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| 6. |
- Pichler, T, et al.
(author)
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Proof for trivalent Sc ions in Sc-2 @ C-84 from high-energy spectroscopy
- 2000
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In: PHYSICAL REVIEW B. - : AMERICAN PHYSICAL SOC. - 0163-1829. ; 62:19, s. 13196-13201
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Journal article (peer-reviewed)abstract
- The electronic structure and the valency of the Sc ions in the endohedral dimetallofullerene Sc-2 @ C-84 with D-2d symmetry are probed using high-energy spectroscopy. Comparison of the Sc 2p --> 3d x-ray-absorption spectrum with calculated ionic multiplet
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