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An analysis of the baseline and mitomycin-C-induced sister chromatid exchange (SCE) frequencies in peripheral lymphocytes derived from three patients with progeria and three Werner syndrome patients is presented. SCE frequencies did not differ significantly between the two groups of patients and their normal controls.
The observation of a 17-year-old teenager with progeria, ventricular septal shortcoming with wide anterolateral [correction of arteriolateral] myocardial ischemia. From an ocular point of view, he shows senescence with senile ectropion, evolutive cataract, retinal angiosclerosis. The role of the manifestation of ocular senescence in Hutchinson-Gilford Syndrome is emphasized.
We report a case of progeria and the utility of visualizing the cerebrovascular anatomy by using MR angiography. A 4-year-old child with Hutchinson-Guilford syndrome developed symptoms of ischemia and MR angiography showed bilateral occlusion of internal carotid and vertebral artery origins; the anterior spinal artery was prominent.
Lymphoblastoid cell lines from patients with xeroderma pigmentosum (2 forms) and progeria (unusual form) were established using transformation of peripheral blood lymphocytes by Epstein--Barr virus. The influence of different UV doses on cell vitality, proliferation and cell cycle progression was studied by means of flow cytometry. The cell vitality was determined after incubation of cells with etidium bromide and FDA. We used cytograms with two logarithmic signals (log green/log red) to discriminate the cell cycle status. Cell cultures were used with density of 500,000 cells per 1 ml, previously synchronized at G-phase by the incubation in a medium with low serum content. The effect of UV irradiation was followed during 72 h. Among four analysed cell lines only line XP2SP demonstrated enhanced UV sensitivity, expressed by decreasing of the amount of living cells after the UV dose of 2.5 J/m2 and higher. The cell cycle studies showed that cells were blocked in S-phase and simultaneously the amount of apoptotic cells with both reduced DNA content and ability to bind FDA was seen increased. Similar events were observed in the control line only after the dose of 20 J/m2 and higher.
Werner syndrome (WS), adult progeria, is more common in Japan than elsewhere. It predisposes to osteosarcoma (OS) and five other rare tumors. To determine if and how OS is atypical in this genetic disorder, we studied the characteristics of ten Japanese cases with respect to clinical features, pathology, and radiographs, and compared them with a hospital series of 36 skeletal OS with the same atypical age-range, 35 - 57 years. The anatomic sites were also atypical: seven ankle / foot, two radius and one patella compared with only one at the ankle in the hospital series. The osteoblastic cell-type was about equally frequent in both series, but, among others than the three major subtypes, there was only one in WS as compared with 14 (39%) in the hospital series. The types of mutations were sought in five WS cases with OS. One showed no mutation at any of the ten known loci for Japanese, two were of type 4 / 4 and two of type 6 / 6. The mutations 4 and 6 have been found in 66% of alleles of WS cases in Japan. The increased frequency and unusual age and site distributions of OS in WS may be due to increased susceptibility, related to later-life leg ulcers, and weight-bearing on spindly ankles weakened by severe loss of lower limb subcutaneous tissue.
Aortic medial calcification was investigated in rats in which the progeria-like syndrome (PLS) was evoked by administering dihydrotachysterol. In 35 experimental rats and 15 controls, calcification was studied morphologically by light and electron microscopy, and by enzyme histochemistry. Body weight, food intake and serum calcium levels were also determined. Calcification occurred along and on the elastic lamellae in association with the accumulation of ground substance. In the smooth-muscle cells surrounding the calcified foci, the activities of various lysosomal enzymes increased concomitantly with a tendency toward transformation of smooth-muscle cells to a modified form. From these observations, the role of ground-substance formation by smooth-muscle cells is postulated, and participation in the catabolism of ground substance by the lysosomal enzymes of these cells is suggested. It appears the increased activity of adenosine monophosphatase should be linked to the calcification. The etiology of weight loss, skin manifestations and aortic calcification in PLS rats seems to be different from that in human progeric diseases. Therefore, the PLS rat should not be readily accepted as an animal model for the study of progeric diseases.
Two cases of Progeria of the adult (Werner's Syndrome) are presented. The outstanding characteristic of the mentioned syndrome is an early, progressive and fatal aging of the patient. The study of those two cases suggested, first: a literature search which has shown 140 references to the Werner's Syndrome up to 1971, and second: a clinical features review about general manifestations and specific particularities concerning the skin, cardiovascular system, eyes, glandular system, laboratory tests, etc. Our two patients, who respond to the signs required by Thannhauser for the diagnosis of the Werner's Syndrome, were very useful to clarify the clinical features review undestalren.
Findings are reported for a 70-year-old man with a progeria-like syndrome consisting of premature aging (per history), diffuse wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked nose and high-pitched voice, The ocular findings include: spontaneous bilateral dislocation of spherophakic mature cataracts into the vitreous together with bilateral retinal vasculitis, characterized by venous congestion, tortuosity and occlusion, To the best of our knowledge, there is no case report with all the above features in one person, Hence, the differential diagnosis will also be discussed.
Neuropathological findings obtained from a female patient, 49 years of age, with progeria adultorum (Werner's syndrome) are described in this paper. Vascular sclerosis with multiple ischaemic infarctions, cerebral atrophy, and vascular myelopathy were the most strongly pronounced CNS findings. Also recorded were severe lipofuscin depositions from the cortex, dentate nucleus, and olivae as well as amylaceous bodies in the insula of Reil and the hippocampus. Neurofibrillary tangles or plaques were not recordable. The central nervous system proved somewhat comparable to other organs, in that mesenchymal regressive changes were the main features.
Adult's progeria or Werner's syndrome is a rare condition of autosomal-recessive inheritance, characterized by an apparent acceleration of many of the processes associated with aging. We describe the cardiovascular findings in a 44 year-old man with this disorder. Slightly elevation of urinary hyaluronic acid level contributes to the diagnosis.
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