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At least 541 records · Page 30Linked to original sources
PubMed1991

[Leg ulcers in Werner's syndrome. Report of one case].

Werner's syndrome (adult progeria) is a rare autosomal recessive condition characterized mainly by a characteristic habitus (short stature, light body weight) scleroderma like changes of the limbs and premature aging. Chronic leg ulcers appears in about fifty per cent of the patients. These ulcers can be related to the combination of mechanical factors on atrophic subcutaneous tissue and skin of the feet and leg associated with early arteriosclerosis (20%) and diabetes mellitus (60%).

Adult↗
PubMed1989

[Changes in collagen connective tissue and fibroblasts in aging].

Some of the characteristic features of aging skin, such as wrinkling, loss of elasticity, and atrophy, can largely be attributed to dermal changes. The amount of collagen in the skin decreases, while the cross linking increases, and the solubility of collagen is reduced. The total number of fibroblasts decreases, and their metabolism shows characteristic alterations. Some of the functions of fibroblasts in aging skin, such as the synthesis of protein and collagen, but also proliferation and chemotaxis, can be investigated by means of in vitro models. In addition, various syndromes of premature aging (e.g. progeria, Werner's syndrome) have proved useful models and have contributed considerably to the understanding of aging processes.

Aged↗
PubMed1989

[Werner's syndrome and intracranial meningioma].

A case of Werner's Syndrome in a 47-year-old man, with typical features of progeria associated with intracranial meningioma is described. A revision of the literature showed that meningioma is the most frequent benign neoplasm in Werner's Syndrome. Meningioma is a peculiar model of neoplasm, because of the frequency of cytogenetical aberrations concerning chromosome n. 22. Either chromosome n. 22 and other chromosomal alterations could be detected in peripheral blood lymphocytes of our patient. These findings suggest a correlation between chromosomal instability and the onset of neoplasms in Werner's Syndrome. Furthermore, the possibility of detecting chromosome n. 22 aberrations in peripheral blood lymphocytes of Werner's Syndrome patients could provide a clue to the presence of a meningioma at a preclinical stage.

Humans↗
PubMed1988

[Congenital poikilodermas].

We discuss the diagnoses and differential diagnoses of the various forms of congenital poikiloderma. In addition, we differentiate this disease from dysplastic syndromes, progeria, and connotal metabolic disorders.

Diagnosis, Differential↗
PubMed1988

[Aneurysm of the internal carotid artery and cervical mega-dolicho-arteries in Marfan syndrome].

The authors describe the case of a Marfan syndrome who presented a giant intracranial internal carotid aneurysm associated with elongation and tortuosity of internal carotid and vertebral arteries on both sides. The skin microscopic examination showed fragmentation and distorsion of elastic fibers. There was no microscopic study of the vessels. Extra and intracranial vascular abnormalities are rarely reported in marfan syndrome: cardiovascular changes are seen mostly in aorta and pulmonary artery. In the literature are reported some giant aneurysms, dissections and dilatations of carotid, basilar and vertebral arteries. Usually the microscopic examination of the vessels show cystic medial necrosis. Other connective tissue diseases (pseudo-xanthoma elasticum, Ehlers-Danlos syndrome, progeria) are described with such clinical abnormalities. Reference is made to the possibility of unknown histological and chemical lesions weakening the vessels in patients without connective tissue disorders and presenting with arterial dissection or arterial aneurysm. So vessels would be more sensible to aging, arteriosclerosis or hypertension.

Aneurysm↗
PubMed1987

Age-related changes in oxidized proteins.

We have previously described the oxidative inactivation of several key metabolic enzymes by a variety of mixed function oxidation systems. Because many of the enzymes which are inactivated have been shown by others to accumulate as inactive or less active forms during cellular aging, we have examined the levels of oxidatively modified proteins in two model systems used for studies on aging. The results show that levels of oxidatively modified proteins increase with age in circulating erythrocytes, and this change is correlated with the loss of marker enzyme activity. Our studies also show that in cultured fibroblasts from normal donors the levels of oxidatively modified proteins increase only after the age of 60. However, the levels of oxidatively modified proteins in fibroblasts from individuals with progeria or Werner's syndrome are significantly higher than age-matched controls. Moreover, treatment of glucose-6-phosphate dehydrogenase with a mixed function oxidation system leads to oxidative modification and increased heat lability of the enzyme. Taken together these results suggest that loss of functional enzyme activity and increased heat lability of enzymes during aging may be due in part to oxidative modification by mixed function oxidation systems.

Adolescent↗
PubMedDate not supplied

Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.

Neuropathological findings in two patients with Cockayne's syndrome, a rare familial condition with mental retardation, progressive neurological deficits, progeria, and dwarfism, are described. Both patients showed extensive tigroid demyelination of the white matter and massive calcifications in the striatum, pallidum, and dentate nucleus. In one patient, neurofibrillary tangles were found in neurons in the nucleus basalis of Meynert, locus ceruleus, substantia nigra, and cerebral cortex, while in the other case only a few tangles were seen in the cerebral cortex. Electron microscopy revealed paired helical filaments. The presence of neurofibrillary tangles in Cockayne's syndrome, rarely reported previously, could suggest premature aging of the brain.

Adolescent↗
PubMed1985

Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms.

This paper analyzes the craniofacial morphology in a patient with typical Hallermann-Streiff syndrome (HSS) who developed symptomatic cardiorespiratory deficiency at the age of 48 years. The patient had obstructive sleep apnea (OSA), hypoxia, hypercarbia, pulmonary hypertension, tricuspid insufficiency, and right ventricular failure. Analysis of cephalometric roentgenograms, done 15 years earlier, revealed severe mandibular hypoplasia with marked underdevelopment of the ramus and body. The gonial angle was abnormally obtuse. The condylar and coronoid processes were reduced in size. The anteroposterior dimension of the upper airway was markedly narrowed. Cephalometric roentgenograms of six other HSS patients from our clinic were compared to those of the reference patient. Considerable variation in the features of the syndrome were noted. None of the other patients showed definitive airway obstruction. Comparison was also made with cephalometric roentgenograms of a patient with Treacher Collins syndrome and of a patient with progeria. The former showed airway obstruction associated with a deformed hypoplastic mandible; the latter had an unobstructed airway despite a small mandible because of associated hypoplasia of the maxilla and tongue. The HSS reference patient improved after oxygen therapy, diuretics, antibiotics, and relief of OSA. Patients with HSS, as well as those with Treacher Collins syndrome, appear to be at risk for the development of cardiopulmonary disease if they have obstructed airways. OSA has been shown to have developed in two patients with HSS. The resultant cardiopulmonary insufficiency of such patients may be preventable if airway obstruction can be relieved relatively early in life.

Adolescent↗
PubMed1984

[Pseudoscleroderma and sclerodermiform states].

Pseudo-scleroderma should not be confused with true scleroderma, the prognosis of which is unpredictable and often serious. Progressive acrosclerosis must be differentiated from Raynaud's disease, congenital or hereditary disorders of unknown aetiology: Werner's syndrome, acrogeria and progeria; Rothmund-Thomson's syndrome, Steinert's disease, phenylketonuria, disorders of glycogen metabolism; metabolic disorders: mutilating acropathies, scleromyxoedema, porphyria cutanea tarda; occupational and iatrogenic disorders: acroosteolysis, toxic epidermic syndrome (Spain), scleroderma-like change induced by bleomycin, chronic graft-versus-host disease; and leprosy. Acute diffuse scleroderma should not be confused with Buschke's scleroedema, sclerema neonatorum, systemic amyloidosis and scleroderma-like changes in hypothyroidism. Linear pseudo-scleroderma is suggested by the following scleroderma-like conditions: facial hemiatrophy, acrodermatitis atrophicans, melorheostosis, pseudo-scleroderma after corticosteroid injection, and cutaneous lesions in carcinoid syndrome. Scleroderma in plaque must be differentiated from hypodermitis sclerotisans, panatrophy and localized lipoatrophies, hypodermitis after vitamin K injection, basal cell carcinoma, necrobiosis lipoidica, vitiligo, chronic radiodermatitis, cutaneous lymphatic invasion. Scleroderma-like changes after drug injection (vitamin B12, progestin), anetoderma barely resemble morphea guttata.

Adipose Tissue↗
PubMed1981

[Serologic properties of antigens HLA-A, B and C].

Human leukocyte antigens (HLA) are transmembrane bicatenar glycoproteins; their heavy chain is coded by chromosome 6 and carries allotypic determinants. These molecules are present in nearly every cell, tissue and biologic fluid. Their congenital absence from fibroblasts is associated with progeria, while their absence from lymphocytes is associated with immunodeficiency. HLA antigens are usually studied microlymphocytotoxicity tests. The numerous cross-reactions encountered make the interpretation of results quite difficult. To clearly understand these reactions a complex-complex model is mandatory. The antigen, the HLA molecule, is complex since it carries many antigenic determinants; some of them are private ("subtypic"), while others are public ("subtypic"). Anti-HLA antibodies are also complex since they are heterogeneous, reacting with variable affinity with different antigenic determinants. The in vitro cross-reactions represent a partial explanation for varying cross-immunogenicity in vivo.

HLA Antigens↗
PubMed1982

[Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

Child↗
PubMed1980

[The Werner syndrome].

Werner's syndrome, also known as "progeria adultorum", manifests itself in young adults. They appear older than their chronological age. Characteristically, there is atrophy in the distal extremities and the face. There is progressive scleropoikiloderma and hyperkeratosis on the foot soles. In the face, there is frequently a "bird-like" expression. Other characteristics are premature graying and early loss of hair, juvenile cataracts, hypogonadism, diabetic symptoms, arteriosclerosis, osteoporosis, small stature with characteristic features, muscle atrophy and cardiac abnormalities. The disease is inherited in an autosomal recessive way. Pathogenesis is unclear. In the following paper, we are reporting the case of a 29 year old saleswoman, who complained of cramps in the calves, and presented the typical symptoms of Werner's syndrome.

Adult↗
PubMed1980

Survey of radiosensitivity in a variety of human cell strains.

gamma-Ray sensitivity for cell killing was assayed in 54 human cell strains, including some derived from individuals suffering from certain heritable diseases. The overall range of Do values in this study was 38 to 180 rads, indicating a considerable range of variability in humans. The normal sensitivity was described by a range of Do values of 97 to 180 rads. All ten ataxia telangiectasia cell strains tested proved radiosensitive and gave a mean Do value of 57 +/- 15 (S.E.) rads, and these represent the most radiosensitive human skin fibroblasts currently available. Representative cell strains from familial retinoblastoma, Fanconi's anemia, and Hutchinson-Gilford progeria occupied positions of intermediate sensitivity, as did one of two ataxia telangiectasia heterozygotes. Six xeroderma pigmentosum cell strains together with two Cockayne's syndrome cell strains (all known to be sensitive to ultraviolet light) fell into the normal range, indicating an absence of cross-sensitivity between ultraviolet light and gamma-irradiation.

Adolescent↗
PubMed1995

[Myocardial infarction in children].

Twenty nine patients with myocardial infarction (MI) of different etiology were analysed. The diagnosis was based on routine clinical examination with ECG predominance. In certain cases cardiac catheterisation with cineangiography and scintigraphy were performed. Myocardial infarction the most often was observed in Bland-White-Garland syndrome (15 cases). In 5 cases MI was found in heart muscle disease, in 3 cases in critical aortic stenosis, and in singular cases in progeria syndrome, bacterial endocarditis and after surgical procedure. In 2 older children the etiology of MI was difficult to establish. Clinical picture of MI in children is different in comparison with adult person. Chest pain, typical for MI in adults, is difficult to diagnose particularly in infants. Localisation of MI is also different, predominant is anteroseptal, lateral, subendocardial and papillary muscle infarction. Relative small number of MI in children is due to difficulty in interpretation of clinical picture and to low popularity of ECG examination in this group of age.

Adolescent↗
PubMed1995

Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.

A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.

Brain↗
PubMed1997

[Relation between genetic and epigenetic mechanisms in aging].

The recent identification of genes involved in the regulation of the longevity of some invertebrates (drosophila, nematodes) as well as the presence of human genes exhibiting homologies to those identified in invertebrates, revived the deterministic theories of aging. It appears however that those mechanisms which were shown experimentally to be involved in aging in vertebrates and in particular in humans belong to the epigenetic mechanisms such as the Maillard reaction and free radical attack in particular. Some diseases which imitate an accelerated aging as Progeria and the Werner syndrome are due to mutations, some of them mutagenic themselves. Reflections based on such arguments concerning reactions with catalysers coded in the genome but with activities escaping strict control, suggest an indirect determinism of phenomena involved directly in cell- and tissue aging. These considerations are illustrated by the example of the elastin-laminin receptor studied in our laboratory. Its sustained activation by circulating elastin peptides appears to be involved in cell and tissue aging.

Aging↗