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Cytogenetic investigations on Werner's syndrome, Acrogeria and Keratosis Palmo-Plantaris.
The frequencies of sister chromatid exchanges and of aspecific chromosome aberrations have been investigated in the lymphocytes from a Werner patient, from an Acrogeria patient and from three members of a family with Keratosis Palmo-Plantaris. These investigations point out that: 1) the SCE frequency is significatively enhanced in Werner as in KPP lymphocytes, 2) the frequency of aspecific chromosome aberrations is increased only in Werner lymphocytes, without evidence of variegated translocation mosaicism. The findings confirm that SCE and chromosome aberrations do not necessarily result from the same genetic damage and that SCE may represent the cytological evidence of unexcised non fatal DNA lesions, which occasionally may be responsible for carcinogenesis.
[Hormones and aging, (1)].
The main hormonal disturbances in ageing are: a slight decrease in the secretion of all hormones, with the exception of gonadotropins in women whose production increases sharply as a result of the almost complete suppression of ovarian activity; a slight but substantial resistance of tissues to the action of most hormones; the cessation of estrogen secretion with an important decrease in androgen secretion in the ovaries; a decrease in androgen secretion with a lesser reduction in estrogen secretion in the testicles; an important decrease in adrenal androgen secretion in both sexes. These findings are the consequence and not the cause of ageing which, to some degree, they do promote, especially in bone, muscle, skin and mucous membranes. Therapeutic incidences of the hormonal disturbances in ageing, though not negligible, are still limited.
[Chromosome instability syndromes].
Chromosome instability syndromes are defined by either an increase of chromosomal breakage or by an increase of sister chromatid exchange number, or by an increase of the two. Bloom's syndrome, Ataxia telangiectasia, Fanconi's Anemia are the main components of this group. The incidence of cancers or malignant blood diseases is high. The finding of DNA repair abnormalities in some of them and their high sensitivity to particular mutagenic agents make these syndromes an interesting model for oncogenesis.
[Obstruction of the celiac trunk and the superior mesenteric artery].
Pancreatic, hepatic and intestinal troubles occurred in a 8 year-old acrogeria girl who was treated for Wilm's tumor by cobalt therapy at 2 1/2 years. Complete obstruction of the coeliac trunk and proximal superior mesenteric artery was shown, associated with hypoplasia of the abdominal aorta and its collaterals in the irradiated areas. Acrogeria might enhance the toxic effects of radiotherapy on vessels.
Acrogeria and elastosis perforans serpiginosa [proceedings].
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Connective tissue abnormalities in diabetes mellitus.
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[Radiation injuries of the chromosomes in the lymphocytes of hereditary disease patients].
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Down's syndrome as a model disease.
Aneuploid chromosomal disorders may offer insight into the pathogenesis of certain common diseases. The birth defects and mental retardation that characterize Down's syndrome are well recognized. In addition, the altered chromosomal content that occurs in the syndrome apparently affects the prevalence of a variety of disorders, such as malignancy, endocrine dysfunction, infection, atherosclerosis, and premature aging. Because the single distinguishing factor in Down's syndrome is the presence of an excess of a part of chromosome 21, the genetic information contained in this chromosomal segment seems to be responsible for the disease manifestations. Techniques of somatic cell genetics and molecular biology allow mapping of human genes and study of their expression. With such methods it should be possible to understand Down's syndrome and other aneuploid disorders and to apply these considerations to other areas of medicine.
[Sclero-porphyria].
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Xeroderma pigmentosum and Cockayne syndrome.
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[Significance of experimental gerontology for modern geriatrics].
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[The gerontogenicity test (G-G test): a new application of the experimental precocious aging syndrome].
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[Werner's syndrome. Presentation of a new case].
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[Advances in the therapy of geriatric dermatoses].
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[Piracetam in premature biological aging. Double-blind study after preselection by drugs].
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[A case of leprechaunism].
The authors report the case of an term infant weighing 2,860 kgs, who presented with failure to thrive during the two first months of life. Clinical features suggested the diagnosis of leprechaunism. After a review of the literature, the authors conclude that the diagnosis of this rare condition is essentially a clinical one, as there are no specific laboratory tests.