1/8. Werner's syndrome: no difference in in vitro life span of dermal fibroblasts from proximal and distal parts of the body.Recently it has been reported that fibroblasts from distal parts of the body of a patient with Werner's syndrome grew poorly in vitro as compared with those from the proximal part of the same patient. To confirm this observation, cultures of fibroblasts from different parts of the body were set up in 2 cases of Werner's syndrome, but no significant difference in life span was observed. Fetal calf serum (FCS) and fibroblast growth factor (FGF) stimulated growth of fibroblasts from different body parts equally well. These data indicate that there is no difference in growth activity of fibroblasts from proximal and distal body parts in patients with Werner's syndrome. Moreover, the growth rate of epidermal outgrowths did not differ significantly between proximal and distal parts of these patients.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/8. A report of two cases of Werner's syndrome and review of the literature.Two cases of Werner's syndrome are reported. The first case is that of a man with grey hair since his 20s, and alopecia since aged about 50 years. At the age of 53 years, Werner's syndrome was diagnosed, along with a malignant soft tissue tumour of the hand. The patient underwent ray amputation for the tumour. The subsequent histopathological diagnosis was synovial cell sarcoma, and the patient died of lung metastasis at 15 weeks postsurgery. The second case is that of a woman diagnosed with diabetes mellitus when aged 34 years. At 39 years, a bilateral cataract was diagnosed and at 40 years, diabetic gangrene of the left calcaneal region and calcaneal osteomyelitis necessitated left below-knee amputation. The incidence of Werner's syndrome in japan is extremely high (1000 of the around 1300 cases reported worldwide) compared to other countries. Most patients develop malignant tumour or arteriosclerosis, the most important complications of this syndrome. The average life expectancy for patients with Werner's syndrome is 46 years. The incidence of epithelial cancer and mesenchymal sarcoma is 10 times that of the general population. The onset of symptoms of Werner's syndrome generally precedes any later symptoms of associated conditions, such as malignant tumour. Therefore, early recognition of Werner's syndrome is important to assist identification of malignant tumours at an early stage in this patient group.- - - - - - - - - - ranking = 0.2keywords = life (Clic here for more details about this article) |
3/8. Possible werner syndrome. A unique association with spontaneous digital gangrene in infancy and decreased life span of cultured skin fibroblasts.BACKGROUND--werner syndrome is a hereditary disease characterized by several features generally associated with aging. However, the differences between werner syndrome and the normal aging process are clear. werner syndrome is usually diagnosed through the clinical signs and symptoms it presents. In recent years, however, the cultured skin fibroblasts of patients have grown slowly and patients have a short life span; these characteristics provide a useful diagnostic aid. OBSERVATIONS--We recently examined a 42-year-old single man who had short fingers, marked facial scars resulting from chilblain-like eruption in infancy, glaucoma caused by uveitis developed in his middle age, callosities on the soles, and immaturation of sexual glands. Repeated peripheral blood examinations showed a positive result for antinuclear factor, slight elevation of immunoglobulin levels, and a low leukocyte count. His family had repeated consanguineous marriages and his parents were cousins. We cultured skin fibroblasts from the patient's forearm and compared them with those of four normal control male subjects. The patient's skin fibroblasts showed a remarkably low population growth rate and a total replicative life span. CONCLUSION--The patients presented unique clinical features for werner syndrome such as chilblain-like eruption in infancy and glaucoma caused by uveitis. Cell culture studies revealed cellular abnormalities compatible with werner syndrome. We thus diagnosed the patients as possibly having werner syndrome.- - - - - - - - - - ranking = 1.2keywords = life (Clic here for more details about this article) |
4/8. Werner's syndrome. Evidence for preferential regional expression of a generalized mesenchymal cell defect.We describe a patient with Werner's syndrome from whom skin biopsy specimens were sampled for histology and electron microscopy and fibroblasts were cultured. Tissue sampled from five sites that varied in clinical presentation revealed striking changes in the dermoepidermal junction, elastic fibers of the papillary and reticular dermis, and adipose tissue of the hypodermis. The density and organization of the collagenous connective tissue was altered variably depending on the biopsy site. Changes noted in the epidermis were indicative of tissue regeneration and repair. cells derived from acral areas grew poorly and could not be passed. collagen synthesis in these cells was enhanced approximately 50%, and collagenase expression was decreased to a similar degree. cells derived from the skin of the trunk could be passed but had an abbreviated in vitro life span. collagen synthesis in these cells was unaltered. serum from the patient with Werner's syndrome or from his obligate heterozygote offspring stimulated collagen synthesis in low-passage normal human skin fibroblast target cells. Sequential passage of these normal cells resulted in a blunting of the stimulatory effect. These observations suggest that a stimulator of collagen synthesis exists in the serum of patients with Werner's syndrome and that as cells (either normal or Werner's syndrome) "age" in vitro they may become hyporesponsive to this as yet undefined stimulatory factor in serum.- - - - - - - - - - ranking = 0.2keywords = life (Clic here for more details about this article) |
5/8. Lymphocyte proliferation and nucleoid sedimentation in a case of premature aging distinct from Werner's syndrome.Lymphocyte proliferation and nucleoid sedimentation were studied in a patient with premature aging resembling the Werner's syndrome (WS). Onset of patchy brown hyperpigmentations at the age of 9 months permitted distinction from classical WS and suggested a WS-like premature aging disease. By photometric recording of density changes during cell culture, we examined the course of cell proliferation after PHA stimulation over 7 days and compared these results to those obtained in two normal controls. Cultured cells of the patient displayed an aberrant proliferation pattern characterized by continuous growth without an initial reduction phase. The markedly reduced proliferative capacity of purified cells from the patient could in part be corrected by fetal bovine serum. The cells of the patient displayed a characteristic nucleoid sedimentation profile after ultraviolet irradiation indicating retarded dna replication, which may be a common feature of various premature aging diseases. The absence of thermolability of cell proliferation and the presence of a high number of chromatid aberrations disclosed differences from classical WS.- - - - - - - - - - ranking = 1.8keywords = life (Clic here for more details about this article) |
6/8. Werner's syndrome. Biochemical and cytogenetic studies.Werner's syndrome is a rare condition of autosomal-recessive inheritance, showing some features of accelerated aging. We describe the clinical findings and laboratory studies in a 29-year-old man with this disorder, who presented because of a leg ulcer. skin fibroblasts from our patient were difficult to culture and proliferated more slowly than those of controls. They produced less glycosaminoglycans than those of controls but synthesized more collagen, which was normal in type. The patient's urinary glycosaminoglycan level was slightly elevated, with hyaluronic acid as a major component. His peripheral blood lymphocytes showed no chromosomal instability and responded normally to mutagens.- - - - - - - - - - ranking = 0.2keywords = life (Clic here for more details about this article) |
7/8. Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome.A 49-year-old man with extensive porokeratosis of Mibelli (PM) developed a squamous cell carcinoma and several carcinomas-in-situ within the lesional skin. The patient also had diabetes mellitus and a short stature with a prematurely aged appearance. The patient's father and two siblings also had PM. The patient died from metastatic squamous cell carcinoma, and at autopsy an adenocarcinoma of the descending colon was also found. fibroblasts cultured from both the PM-affected and unaffected skin showed chromosomal abnormalities and a decreased lifespan. Cellular sensitivity to ultraviolet rays measured by unscheduled DNA synthesis and colony-forming ability were within normal limits. An association with a forme fruste of Werner's syndrome was suspected.- - - - - - - - - - ranking = 0.2keywords = life (Clic here for more details about this article) |
8/8. Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family.Four cases of acrogeria in one large family with multiple consanguineous marriages are reported. Inheritance is autosomal recessive. Evaluation of six generations of this family also showed six individuals with congenital blindness; this pedigree suggests autosomal recessive inheritance also for this disorder. association of the two conditions was not seen in living members. The initial presentation in the patients with acrogeria was failure of growth during the first year of life, accompanied by characteristic facial appearance and cutaneous atrophy of the face and extremities. The radiologic features of these patients were acro-osteolysis, wide sutures and fontanelles, wormian bones, mandibular hypoplasia and avascular necrosis of the femoral heads. Other features were osteolysis of the clavicles, soft tissue calcification, osteoporosis and coxa valga, which have not been described in previous reported cases.- - - - - - - - - - ranking = 0.2keywords = life (Clic here for more details about this article) |