Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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%).
 ...
PMID:[Leg ulcers in Werner's syndrome. Report of one case]. 179 75

It could be demonstrated that plasma and tissue fibronectin (FN) increase with age. Some age dependent diseases as diabetes, osteoarthritis and Werner syndrome produce also an increase of tissue fibronectin biosynthesis. Plasma fibronectin decreases in diabetes and in breast cancer. Alternative splicing of the FN gene appears also to vary with age and in some related pathologies. Nutritional status and UV light also influence FN biosynthesis. It appears therefore that the determination of plasma FN and its isoforms as well as the study of tissue FN may be of interest for the study of chronological aging and related pathologies.
 ...
PMID:[Fibronectin, aging and related pathologies]. 183 21

We describe a new familial syndrome in three siblings; it is biochemically characterized by a combined defect of the action of the three related peptides insulin, insulin-like growth factor I (IGF I) and epidermal growth factor (EGF). Clinically, the disease has features of Werner syndrome with lipodystrophy, scleroderma-like alterations of the skin, alterations of the skeleton and contractures of joints. In addition, one of the patients has an insulin-resistant diabetes mellitus. Studies with cultured fibroblasts obtained from skin biopsies show a markedly reduced stimulation of RNA synthesis by the three growth factors and a decreased insulin stimulation of 2-deoxy-D-glucose uptake as compared with normal controls. Receptor binding of the three peptides occurred with normal capacity and affinity. We conclude that the signal transfer of different growth factors has a common denominator at the postreceptor level.
 ...
PMID:A new familial syndrome with impaired function of three related peptide growth factors. 247 23

A 33-year-old female has developed Werner's syndrome. The prognosis of the condition is unfavourable because of early symptoms of diabetes and atherosclerosis.
 ...
PMID:[Werner's syndrome]. 261 73

We present two cases of Werner's syndrome associated with intracranial meningioma. Characteristic clinical features of Werner's syndrome include short stature with slender extremities, premature senility, juvenile cataract, skin changes, a tendency to diabetes mellitus and familial occurrence. A 44-year-old female, who had been treated for diabetes mellitus, was diagnosed as having Werner's syndrome because of various characteristic features. A falx meningioma was incidentally found on CT scan, and was surgically removed. Her diabetes mellitus improved. The second case was a 28-year-old male was diagnosed as having Werner's syndrome, diabetes mellitus, juvenile cataract, together with diabetes insipidus, and liver dysfunction. He developed severe headache, gait disturbance and then became unconscious with right hemiparesis. He was found to have a parasagittal meningioma by CT scan and angiography. After removal of the tumor, diabetes mellitus, diabetes insipidus and liver dysfunction improved. The reported incidence of neoplasms associated with Werner's syndrome is about 10%. The majority of associated tumors were mesenchymal in origin. Ten meningiomas, 1 neurinoma and 2 gliomas are reported as associated tumors in the central nervous system. Most of the associated meningiomas were asymptomatic and found incidentally at autopsies or CT scans. Diabetes mellitus associated with Werner's syndrome is generally mild with high immunoreactive insulin value and is controllable by diet therapy and oral antidiabetic drugs. Daily profile of blood sugar improved after the removal of tumor in our cases. In 50 gm glucose tolerance test, tendency of delayed appearance of peak value, which is common in Werner's syndrome, was not altered in our cases. Discussion is made as to the association of Werner's syndrome with meningioma and diabetes mellitus.
 ...
PMID:[Werner's syndrome associated with meningioma: case report]. 328 33

Recent concepts on the mechanisms of aging of extracellular matrix (EM) are reviewed as well as its involvement in age-associated diseases. Cell differentiation, histogenesis and organogenesis can be analyzed in terms of the program of the biosynthesis of EM macromolecules during development, maturation and aging. The most important biological role of EM is the integration of cells in tissues, of tissues in organs and of organs in the whole organism. EM can directly influence cell behavior through the contact between EM and the genome mediated by structural glycoproteins (fibronectin, laminin, elastonectin, etc.) interacting with other EM macromolecules (collagen, proteoglycans, elastin) and the cytoskeleton by trans-membrane receptors (integrins). Most age-associated diseases exhibit a deviation (qualitative or quantitative) from the normal program of EM biosynthesis. Three examples are analyzed in some detail: atherosclerosis, diabetes and malignant tumors. The degradation of elastic fibers catalyzed by cellular elastase-type enzymes is observed in atherosclerosis and also in emphysema and skin aging. Several of these enzymes were isolated and characterized from platelets, fibroblasts, smooth muscle cells and lipoproteins. The biosynthesis of some of them increases with age and facilitates cell migration. Plasma fibronectin increases with age exponentially. This increase is absent or strongly attenuated in diabetes and some cancers. Tissue fibronectin increases in diabetes, Werner syndrome and in the peritumoral desmoplastic reaction while most tumor cells can no more retain fibronectin on their membrane facilitating their movement in the organism. These examples demonstrate the importance of the study of cell matrix interactions for gerontology.
 ...
PMID:Aging of the extracellular matrix and its pathology. 328 58

A 41-year-old woman was diagnosed as having Werner's syndrome associated with bladder cancer. The patient noticed sudden, total gross hematuria in September, 1985. Cystoscopy revealed a papillary tumor with a stalk that was accompanied by a daughter tumor and concealed the left ureteral orifice. The tumors were 25 X 20 X 10 mm and 15 X 10 X 5 mm. Double contrast cystograms, computed tomography and transurethral echo showed no invasion of muscle layer. Intravesical instillation of mitomycin (10 mg), cylocide (300 mg) and adriacin (30 mg) was carried out 3 times per week for 4 weeks. Tumor size was reduced, and then TUR was performed. High power section of the removed bladder tumor showed pathologically PNT, TCC, grade II, INF alpha, pTla, lyo and v(-). The patient had such clinical manifestations as short stature with low body weight, thin limbs and stocky trunk, senile face, early graying hair, highpitched voice, bilateral cataracts, osteoporosis, sclerodermia-like signs, flat feet, tendency toward diabetes mellitus and parental consanguinity. Hyaluronic acid was not detected in the urine. To the best of our knowledge, this seems to be the 30th report describing the association of malignancy with Werner's syndrome in Japan; besides, only one other case of bladder cancer in Werner's syndrome has been reported to date in the world.
 ...
PMID:[A case of Werner's syndrome associated with bladder cancer]. 359 91

A significant improvement of hyperinsulinemic diabetes was observed in a patient with Werner's syndrome after the removal of a large parasagittal meningioma. To our knowledge this is the second case reported in the literature. The possible relationship between meningioma and diabetes in Werner's syndrome is discussed.
 ...
PMID:Improvement of hyperinsulinemic diabetes following removal of a meningioma in Werner's syndrome. A case report. 638 94

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.
 ...
PMID:Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome. 649 91

Werner's syndrome is a rare, autosomal recessive condition with multiple progeroid features, but it is an imitation of aging rather than accelerated or premature senescence. Somatic chromosome aberrations occur in multiple tissues in vivo and in vitro, and there is an increased incidence of neoplasia. Thus. Werner's syndrome can be classified in the group of chromosome instability syndromes. Recent findings provide additional support for the concept that there is an aberration of connective tissue metabolism in Werner's syndrome, but it is unclear whether this is a primary or secondary manifestation of the underlying genetic defect. Abnormal growth characteristics are observed in cultured skin fibroblast-like cells and this provides another avenue for current research. Identification of the basic genetic defect in Werner's syndrome might clarify our understanding of the normal aging process in general, or might elucidate specific aspects such as the development of neoplasia, atherosclerosis, diabetes, or osteoporosis.
 ...
PMID:Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations. 675 66


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>