Cerebral phycomycosis (mucormycosis) with ocular involvement.
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Aged↗
Biomedical subjects
J Ginsberg
Publications and source records attributed to J Ginsberg.
Ocular manifestations of 13-15 trisomy. Report of a case with clinical, cytogenetic, and pathologic findings.
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Eye Abnormalities↗
Stimulation of iodine organification in porcine thyroid cells by thyroid stimulators.
Several Graves' sera were simultaneously assessed in a bioassay based on the ability of porcine thyroid cells to organify 125I and in a radioreceptor assay for TSH receptor binding activity. Both assay systems were sensitive to 1 mcU/ml (final concentration) of unlabelled bovine TSH. Six Graves' sera were studied in detail over a wide (0-1.0 mcl sera) dose response range in repeat determinations. Two sera exhibited parallel binding and stimulating. However, two sera revealed significant inhibition of 125I-TSH binding prior to the demonstration of stimulation and the other two sera showed stimulatory capabilities before significant binding was evident. IgG was prepared from one serum by ammonium sulphate precipitation and chromatography on Sepharose 6B and then subjected to preparative isoelectric focusing. The isoelectric distribution of the two activities were found to be identical with major peaks of activity at pl=9.5 and pl=8.5. In summary: 1) each Graves' sera exhibits different dose-response curves with respect to binding and stimulation, 2) at certain concentrations of sera, only binding or stimulation were evident, 3) neither assay was consistently more sensitive for the presence of Graves' immunoglobulins, 4) for one Graves' sera, binding and stimulation could not be separated by isoelectric focusing. These studies would suggest each Graves' immunoglobulin has inherently different characteristics in its interaction with the TSH receptor.
Animals↗
Further observations of ocular pathology in Down's syndrome.
We studied the eyes of two children with proven trisomy 21 and updated the microscopic ocular findings. The ocular malformations, generally of a minor nature, comprise a variety of nonspecific hyperplasia or hamartomata, hypoplasias, tissue defects and heterotopias, and involve virtually every portion of the globe. Ocular and extraocular abnormalities in Down's syndrome do not correlate well embryologically, cytogenetically or in regard to incidence or severity. The type of ocular anomalies usually encountered in trisomy 21 suggests that the globe was affected by the chromosomal anomaly rather late in its development.
Adult↗
Pathological features of the eye in the oculocerebrorenal (Lowe) syndrome.
We studied the eyes of a 13-year-old boy with Lowe syndrome and updated the microscopic ocular findings. These are interpreted as a mesoectodermal dysgenesis involving the anterior and posterior segment. The eye exhibits a greater variety of morphologic change than any other organ in Lowe syndrome. The microscopic findings, particularly in the lens, are highly suggestive of this disorder. The pathogenesis of the ocular and extraocular lesions in Lowe syndrome in unknown. Most of the ocular abnormalities are probably determined in the first two months of gestation and there is no apparent embryologic relation to extraocular abnormalities. Some manifestations of Lowe syndrome may be secondary to accumulation of polyamines, a class of compounds that includes cytotoxic byproducts of faulty dibasic amino acid metabolism.
Adolescent↗
Pathologic features of the eye in triploidy.
Triploidy is a cytogenetic abnormality characterized by 69 chromosomes rather than the normal 46 in each cell. It is one of the most common chromosomal aberrations reported in early spontaneous abortion. Estimates are that 17-20% of chromosomally abnormal abortuses (early) are triploid. 1,2 Although the majority are stillborn, at least 25 liveborn triploidics have been reported. 3-9 All were premature and most died in the first 6 hours;the longest survival was 2 months. 4 By contrast, a diploid/triploid mosaic (mixed cell lines) individual may survive to adulthood. Although ocular lesions are one of the components of the triploidy syndrome, reports of histologic findings are comparatively rare. 1,3,6,10,11 This prompted us to study the ocular pathology in another case of triploidy. Our results confirm and extend those previously described and emphasize the pattern of ocular abnormalities in this disorder.
Chromosomes, Human, 13-15↗
Pathologic features of the eye in trisomy 9.
A clinical and pathologic study of a neonate with mosaic trisomy 9 revealed findings similar to those in other cases with this chromosomal anomaly. Except for deeply-set eyes and small palpebral fissures with slight telecanthus, our ocular findings have not previously been described in mosaic trisomy 9. The most striking ocular pathologic alterations involved the anterior segment and included a keratolenticular adhesion and marked iris hypoplasia. There were similarities to Peters' anomaly as well as to ocular lesions associated with aplasia of th optic nerve and Lowe's and Potter's syndrome. The ocular and extraocular anomalies in our patient appear to have resulted from a mesodermal dysgenesis operational between one and five and a half months of gestation.
Abnormalities, Multiple↗
Further observations of ocular pathology in trisomy 9.
The ocular pathology in a new patient with mosaic trisomy 9 comprised major anomalies and contrasted sharply with the findings in a previous case reported by us. The ocular changes in this case were, in essence, indistinguishable from those encountered in the most severe form of trisomy 13. Similarities to trisomy 18 and 21 were further evidence of the overlap of ocular findings in autosomal trisomies. There is increasing evidence that most, if not all, chromosomes have some role in regulating ocular embryogenesis.
Chromosomes, Human, Pair 9↗