Biomedical subjects
Publications and source records attributed to S Borenstein.
The authors report a case of Guillain-Barré syndrome occurring after a hip replacement associated with hyponatremia due to a syndrome of inappropriate secretion of antidiuretic hormone (SIADH). They describe and review the literature about this syndrome's etiology and its association, relatively rare, with SIADH. The diagnostic reasoning and the therapeutic possibilities are described.
An unusual myopathy with extensive myofibrillar degeneration related to the Z disk is reported. Focal Z disk disappearance, accumulation of numerous rods and cytoplasmic bodies and some rimmed vacuoles represented the major pathologic features of this sporadic muscular disorder, sharing common clinical and electrophysiological features with inclusion body myositis. This diagnosis was excluded because all nuclei appeared normal and 15-18 nm filaments were not observed in cytoplasm or in the vicinity of membranous whorls. Intramuscular innervation was studied by vital staining with methylene blue: the terminal innervation ratio was normal, indicating a myopathic disorder. The relationship between the present disorder and cytoplasmic bodies and nemaline myopathies is discussed.
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The pattern and timing of the breakdown and loss of matrix proteins were studied in developing rat incisor enamel using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), fluorography, radioautography, and in vitro incubations of proteins isolated from freshly dissected, crushed pieces of enamel. For biochemical studies, the technique of Robinson et al. (1974, 1977, 1983) was used to transect the enamel organ and enamel into a series of strips at 1 mm intervals along the length of the tooth. The proteins in each strip were extracted and either quantified by Lowry analysis or applied to 12% slab (enamel) or 5-15% continuous gradient (enamel organ) SDS-polyacrylamide gels and separated by electrophoresis. The biochemical studies indicated that the amount of protein contained within an enamel strip increased gradually by volume across the secretory stage, reached a peak early during the maturation stage, and then declined rapidly thereafter. The distribution of enamel proteins on SDS-polyacrylamide gels changed markedly throughout this period. These changes included increases and decreases in the intensity of staining of proteins at certain molecular weights (e.g., 18 kDa) and the appearance and disappearance of some proteins not seen clearly near the start of the secretory stage of amelogenesis (e.g., 32 and 10 kDa). Labeling studies with 35S-methionine suggested that the "stacked" arrangement of proteins typical of forming enamel (secretory stage) actually represented a very dynamic association of proteins, with new ones being added at the top of the stack and then breaking down with time to become those seen at lower molecular weights. Across the secretory stage, new proteins were always added to the top of the stack, but during early maturation this activity slowed dramatically, allowing the breakdown of aging proteins to be visualized more clearly. Radioautographic studies with 3H-methionine indicated that the breakdown of newly secreted proteins also was correlated with a movement of label from the site of secretion into deeper, previously unlabeled, areas of forming enamel. In vitro studies revealed that the rate and degree of breakdown of enamel proteins varied markedly, depending on the stage of amelogenesis from which the proteins were extracted. Secretory stage enamel proteins showed slow in vitro degradation with accumulation of proteins near 18 kDa. Early maturation stage enamel proteins showed more rapid breakdown with little accumulation of proteins near 18 kDa, whereas late maturation stage enamel proteins showed complete degradation by 2 days of incubation in vitro.(ABSTRACT TRUNCATED AT 400 WORDS)
We have isolated and sequenced a baboon apolipoprotein A-I (ApoA-I) clone from a liver cDNA library using a human cDNA hybridization probe. This baboon cDNA contains the entire ApoA-I coding region (801 bp, 267 aa), a 3' untranslated region, and a poly(A)tail. Among comparisons with apoAI sequences from other species, the baboon cDNA is most similar to that of the cynomolgus macaque (99.2% homologous) and least similar to the rat sequence (72.6% homologous). A high frequency of nonsynonymous substitutions are observed by alignment of baboon and human apoAI cDNAs, but comparisons of hydrophilicity profiles show that protein structure is conserved by substitutions of aa with similar properties. A polymorphic PstI cleavage site was identified by Southern blot analysis and subsequently mapped to the 5' end of the baboon apoAI gene. To identify effects of apoAI allelic variation on cholesterol metabolism, we used immunoblotting to compare the distributions of ApoA-I among lipoprotein size classes in baboons from each genotype under basal and atherogenic diets. We observed an increase of ApoA-I in high density lipoprotein (size class 1) particles after atherogenic diets in homozygotes for one allele, as compared to slight decreases in the other genotypes.
We tested the hypothesis that the somatosensory central conduction time (CCT) can reveal central nervous system involvement in vitamin B12-deficient patients when this cannot be established on clinical grounds alone. Three patients with pernicious anemia and without clinical signs of upper motor neuron lesion had a striking increase of CCT. This increase was shown to be reversible in 1 patient who improved over 3 years of treatment. Detailed analysis of the CCT showed that the decrease of conduction velocity occurred in the posterior columns, whereas the conduction was normal at the thalamo-cortical level. We conclude that CCT is a useful parameter to localize and quantify central nervous system disease in vitamin B12 deficiency.
To develop the baboon model for molecular genetic studies of atherosclerosis, we have cloned and sequenced the baboon apolipoprotein E (apo E) gene. The baboon apo E gene encodes the E4 isoform with respect to specific amino acid positions, suggesting that the common epsilon 3 allele is not the primal human allele. Rather than accumulating predominantly synonymous nucleotide changes, 50% of substitutions in human and baboon apo E gene coding regions cause amino acid substitutions. However, comparisons of these apo E proteins show conservation of amphipathic helices required for apo E--lipid interactions. The human and baboon apo E genes have diverged less extensively than those from rat and mouse, providing further evidence for a slowing of molecular evolution in primate species. The baboon and rhesus monkey apo E genes (intron 2) contain two Alu repeats that are absent in the human gene, indicating insertion after the divergence of human and cercopithecine lineages, but before the baboon/rhesus divergence. S1 nuclease studies show that transcription of the baboon apo E gene starts at two different positions, one of which corresponds to the human gene start site. To examine linkage of apolipoprotein genes in the baboon genome, we have used a human cDNA probe to detect apo C-I gene sequences approximately 4 kb from the 3' end of the baboon apo E gene.
In 27 normal adult subjects, pre- and postimperative phases of the CNV had an homogeneous pattern. The return to the baseline was of short duration (320 +/- 170 msec) whatever the amplitude and surface. This is in favor of an active mechanism terminating the CNV. In 27 schizophrenic and 13 schizoaffective patients, pre- and postimperative phases of the CNV were heterogeneous in character suggesting the possibility of multiple disturbances. When present, the preimperative negativity was of lower amplitude and had a delayed return to the baseline with a wider dispersion. In the patients with preimperative negativity followed by a PINV (postimperative negative variation), a linear relationship has been found between the amplitudes of the two waves.
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The gating effect of self-paced rapid flexion movements of the fingers on the early somatosensory evoked potentials following electrical stimulation of the median nerve at the wrist was studied in normal volunteers. Triggering of the median nerve stimulation by the EMG signals with a delay of 100 msec showed that the slow positive wave of the movement-associated potential was not directly responsible for the SEP amplitude variations observed. The nerve action potential at Erb's point as well as far-field components P9 and P11 were unchanged by the active movements. Far-field components P13-P14, which are presumably generated in the medial lemniscus, were not significantly modified. An enhancing effect on the widespread N18 component was found, which is in favour of a subcortical gating process. The parietal component N20 was unchanged by active movement interference whereas the frontal P22 component showed a marked suppression. A fronto-parietal dissociation was thus disclosed which could be in favour of separate cortical generators in the debate on the origin of SEP components. An important gating effect was observed on parietal P27 and frontal N30 components, the latter being considerably reduced in amplitude. The parietal P45 component showed no significant alteration. Each component of the early SEPs was thus distinctly influenced by the gating process during active movement interference.
An 18-year-old girl developed a reversible locked-in state with bilateral ptosis and almost complete ophthalmoplegia. She later presented with a relapsing and remitting course suggestive of multiple sclerosis. Autopsy findings demonstrated bilateral capsular and tegmental demyelinating lesions. In addition to this unusual aetiology, this is the first report with pathological evidence of a locked-in syndrome due to lesions outside the ventral brainstem.
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A patient with myotonia congenita (Thomsen's disease) presented with unpleasant sensations of tightness in the chest and dyspnea, which were maximal at the beginning of exercise and gradually improved as exercise progressed. Lung function tests and maximal static respiratory pressures were within normal limits. Precise electromyographic (EMG) and mechanical studies, however, demonstrated the increased excitability, impaired relaxation, and transient weakness of the respiratory muscles. These studies thus indicate that myotonia congenita may involve the respiratory muscles to the same extent as any other skeletal muscle, and that precise EMG studies are occasionally useful in determining the organic basis of respiratory symptoms.
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