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  • 1
    ISSN: 1432-0533
    Keywords: Heparan sulfate proteoglycan ; Neurofilament ; Spheroid ; Conglomerate inclusion ; Motor neuron disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The spinal cords from eight autopsy cases of sporadic motor neuron disease (MND) and two control cases were immunohistochemically examined using anti-bodies directed to neurofilament proteins (anti-Nf) and to heparan sulfate (HepSS-1). Variable numbers of spheroids were observed in the anterior horns in the MND cases. In one case of MND, one third to half of the remaining anterior horn cells contained conglomerate inclusions in their perikarya. These pathological structures were not encountered in the control cases. The immunohistochemical study revealed that both anti-Nf and HepSS-1 intensely labelled all spheroids and conglomerate inclusions in the MND cases. The colocalization of heparan sulfate with neurofilamentous accumulation suggests that heparan sulfate is required for the aggregation of neurofilaments, resulting in the formation of spheroids and conglomerate inclusions in MND.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis. The insertion locates between positions -22 and -21 from the translation termination codon TAA, causes a frame shift, and results in a stop codon located 4 codons downstream from the insertion (premature stopping of translation). The mutation generates an MspI recognition site, which can be used, in turn, to detect the mutant allele. Analysis of the cDNA fragments amplified by PCR revealed the existence of the abnormal PBG-D mRNA from the mutant allele in the patient.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have identified a GT dinucleotide repeat polymorphism in intron 14 of the human ceruloplasmin gene. Observed heterozygosity for the polymorphism is 0.84.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Sequencing of the polymerase chain reaction amplified exon 2–4 fragment of the human porphobilinogen deaminase gene revealed a G/T polymorphism (I2G and I2T) in intron 2, and a G/A polymorphism (I3G and I3A) in intron 3 of the gene. The frequencies of these alleles are presented.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-amplified DNA fragments of the gene by a direct-sequencing method. A point mutation, G to A, was found in exon 4 of the gene at position 538 of the cDNA from the reported putative translation initiation codon ATG. This mutation results in a glycine to arginine substitution at amino acid 180. Two carriers in the family were successfully diagnosed by detecting the mutation using restriction analysis of the PCR products.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 13 (1971), S. 239-255 
    ISSN: 1432-1106
    Keywords: Quantitative analysis ; Receptive field ; PST histogram ; Topological contour map ; Latency analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A quantitative approach to characterization of unit response in the visual system was proposed. Temporal parameters of response were analyzed by post stimulus time-histograms obtained from point visual stimulation. Explicit temporal intervals were chosen to coincide with discrete response components. By calculating net firing rate within these intervals as a function of stimulus position, quantitative receptive field maps were constructed. To estimate response between stimulated matrix mesh points, a general contouring program was described. Latency, and synchronicity — a logarithmic probability function sensitive to temporal consistency of response — were also mapped as functions of stimulus position. Representative firing rate maps morphologically resembled previously described receptive fields; latency and synchronicity maps, it is argued, allow for additional mechanistic and functional analysis of striate units. By explicitly separating temporal and spatial variables and quantifying unit response, the present methods will hopefully enlarge the scope and sensitivity of receptive field analysis.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 13 (1971), S. 256-272 
    ISSN: 1432-1106
    Keywords: Quantitative receptive field ; Sequential change ; Barbiturate anesthesia ; Striate unit ; Visual perception
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 1. A general purpose, digital computer was employed to map quantitatively the receptive fields of units in cat's striate cortex. 2. Receptive fields were studied as a function of barbiturate anesthetic level under dark adapted conditions. 3. Receptive fields obtained from lateral geniculate axons were topographically simple and usually represented a single peak with concentric zones of decreasing excitability. Such fields were stable under all anesthetic and electroencephalographic conditions. 4. Responses were recorded from striate cells, both simple and complex in the sense of Hubel and Wiesel. These demonstrated varied field configurations such as an excitatory cylinder in an inhibitory field, excitatory vertical axis flanked by asymmetric inhibitory areas, and more complex patterns including potentially direction and velocity sensitive ones. 5. Many cortical maps were unstable over time, especially in the presence of low voltage, fast electroencephalographic activity. Changes were not random nor did they represent simple linear displacements of peaks, but included axis shifts, gradient change, and expansion or contraction of excitatory and inhibitory zones with centers at fixed relative positions. 6. Heavy barbiturate anesthesia and spontaneous spindling in the EEG markedly reduced the variability in these maps; the encephale isole preparation was more stable than spinally intact animals. This association suggests a role of the midbrain reticular formation in cortical variability. 7. Random rather than iterative presentation of matrix points resulted in higher mean firing rates and more stable receptive fields, probably the result of photochemical recovery in dispersed receptors and time averaging of cellular excitability. 8. When stability was analyzed as a function of time interval of response (early on, late on, early off, late off), initial on responses were often more stable than longer latency late on- or off-responses. This factor, among others discussed, makes eye movement an unlikely explanation for map variability. It suggests additionally that late on- and off- responses represent input to the cortical cell from units other than those producing the early on-response. 9. The effects of pentobarbital, in addition to stabilization of the receptive field, included striking phase reversals in which inhibitory regions became excitatory and visa versa. Firing rate often changed substantially, but both increases and decreases were observed. 10. It is argued that visual response under pentobarbital is a special and not the general case of visual perception and that sequential receptive field changes during aroused brain states reflect integrative, purposive processes at the cortical level.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1106
    Keywords: Light adaptation ; Striate unit ; Quantitative receptive field ; Visual acuity ; Simple and complex cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 1. A digital computer was employed to map quantitatively the receptive fields of units in cats' striate cortex. The computer presented point visual stimuli via a digital oscilloscope, synchronously sampled unit spike response, and composed a post stimulus time-histogram of response at each stimulated matrix point. 2. Animals were prepared under diethyl ether anesthesia, immobilized with a mixture of gallamine triethiodide and d-tubocurarine, and lightly anesthetized with pentobarbital sodium. Light and dark adapted conditions were contrasted in terms of effect on organization of striate receptive fields. 3. Striate response was analyzed temporally by means of post stimulus time-histograms. Phasic early on-, phasic late on-, tonic on-, phasic early off-, and phasic late off-response components were distinguished. The mechanism, differential behavior in light and dark adapted conditions, and functional significance of these components were investigated. 4. From unit response at all stimulated positions, an explicit temporal interval was chosen to coincide with each discrete component of response. Net firing rate during this interval was represented as a terrain value at appropriate spatial coordinates; a contour generating program was then employed to construct a continuous surface of excitability or “fractional receptive field map.” Quantitative spatial representation of successive components of response allowed for afferent “circuit analysis” and functional predictions of moving border and contrast sensitivity. 5. The qualitative categories of simple and complex striate unit are analyzed in the light of quantitatively determined receptive field maps. It is suggested that the distinction is not a fundamental one, but that there exists a continuum of complexity between geniculate-dominated and cortically-dominated striate units. Quantitative point stimulation appears to be an adequate and most general way of characterizing “complex” units. 6. Receptive fields obtained under light and dark adapted conditions are contrasted with the aid of firing rate, latency, and synchronicity maps. In summary, it was the case that processes observed at the ganglion and geniculate cell level were expressed and emphasized cortically. Functional changes in striate response led to an enhancement of contrast perception and spatial acuity in light adapted conditions and the development of absolute sensitivity at the cost of resolution in darkness.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1573-4919
    Keywords: cardiac contraction ; cardiomyocyte ; encosapentaenoic acid ; ischemia and reperfusion injury ; perfused heart ; polyunsaturated fatty acid ; prostagalndin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract The effects of eicosapentaenoic acid (EPA) and long-term treatment with EPA-ethylester (EPA-E) were examined in perfused rat hearts subjected to ischemia/reperfusion and adult rat cardiomyocytes subjected to hypoxia/reoxygenation. EPA (0.1 μM) improved postischmic contractile dysfunction of the ischemic/reperfused heart. EPA (10 μM) attenuated hypoxia/reoxygenation-induced morphological deterioration of cardiomyocytes. The results suggest the presence of direct cardioprotective effects of EPA. Rats were orally treated for 4 weeks with 1 g/kg/day of EPA-E to elucidate ex vivo effects of EPA, and the fatty acid composition of cardiac phospholipids was determined. The percent ratio of EPA in total fatty acids of cardiac phospholipids increased whereas that of arachidonic acid decreased. The percent ratio of n-3/n-6 fatty acid did not increase. Treatment with EPA-E did not improve the post-ischemic contractile function, but attenuated the ischemia/reperfusion-induced release of prostaglandins during reperfusion. Treatment with EPA-E preserved a better morphological appearance of the cardiomyocytes subjected to hypoxia/reoxygenation. The results suggest that the mechanisms responsible for cytoprotective effects of hypoxic/reoxygeanted cardiomyocytes or inhibition of metabolic alterations of the ischemic/reperfused heart by long-term EPA-E treatment did not contribute substantially to recovery of post-ischemic contractile dysfunction. The direct in vitro effects of EPA may play a role in the protection of the heart from ischemia/reperfusion or hypoxia/reoxygenation injury.
    Type of Medium: Electronic Resource
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