1/4. Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis.Werner's syndrome is a rare genetic disease characterized by premature aging and scleroderma-like involvement of the skin. We report a case of aortic valve replacement for severely calcified aortic valve stenosis with a small annulus in a patient suffering from Werner's syndrome and liver cirrhosis- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
2/4. Regional differences in insulin receptor function in Werner's syndrome.Werner's syndrome is a genetic disease characterized by premature aging and is often associated with glucose intolerance due to insulin resistance. The clinical manifestations in this syndrome are preferentially expressed in the face and acral regions without apparent involvement of the trunk. We compared insulin receptor binding and amino acid uptake of fibroblasts derived from the forearm that had sclerodermoid features, and from the abdomen that was apparently normal in a patient with Werner's syndrome. In normal controls, specific insulin binding was not different in forearm and abdomen-derived fibroblasts (10.72 /- 2.11%, 10.40 /- 1.27%, respectively). In the patient, however, specific insulin binding was reduced in the fibroblasts derived from the forearm compared with those derived from the abdomen (3.55%, 8.16%, respectively). Scatchard analysis revealed that the reduction in insulin binding of the forearm fibroblasts from the patient was due to a reduction in receptor number with no change in receptor affinity. The dose-response curve for insulin of alpha-aminoisobutyric acid (AIB) uptake is shifted to the right in the fibroblasts derived from the acral area. The results show that in a patient with Werner's syndrome, regional differences occur in fibroblast insulin receptor binding and function. This suggests early phenotypic expression of the genetic abnormality of insulin receptor function in these patients.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
3/4. Congenital absence of the tibiae and thumbs with polydactyly. A rare genetic disease (Werner's syndrome).Report of a male with bilateral aplasia of the tibiae and polydactyly. The autosomal dominant pattern of inheritance is emphasized through the study of this family and literature review.- - - - - - - - - - ranking = 4keywords = genetic disease (Clic here for more details about this article) |
4/4. Premature aging in Werner's syndrome spares the central nervous system.Werner's syndrome is a rare genetic disease, characterized by premature aging of many tissues and organs. We studied the brain morphology and function in two patients with Werner's syndrome to assess the possible involvement of the central nervous system in this premature aging process. The two patients (brother and sister, respectively) were studied by magnetic resonance imaging (MRI) and angiography (MRA), single photon emission computed tomography (SPECT) with (99mTc)-d,l-hexamethyl propilene amine oxime (HMPAO), positron emission tomography (PET) with 2(18F)-Fluoro-2-deoxyglucose (FDG), electroencephalography (EEG), and electromyography (EMG). Some of these investigations were also repeated after 1 year. The results of all these studies were normal. The premature aging process in patients with Werner's syndrome, while affecting most tissues, seems to spare the central nervous system.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |