1/18. A case of Werner's syndrome associated with osteosarcoma.We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/18. Evaluation of insulin response in glucose tolerance test in a patient with Werner's syndrome: a 16-year follow-up study.To clarify the effect of Werner's syndrome (WS) on beta-islet cell function, the oral glucose tolerance test (OGTT) was repeatedly performed over a period of 16 years in one patient with WS. The data obtained on insulin secretion were assessed in this study. The patient was a 50-yr-old woman of consanguineous parentage. She presented with gray hair, cataracts, a beak-shaped nose and high-pitched voice. She was diagnosed as WS on the basis of her characteristic appearance. OGTT was performed 14 times during 9 admissions to our hospital. After ingestion of glucose, plasma glucose (PG) levels and immuno-reactive insulin (IRI) at 0, 30, 60, 90, 120 and 180 min were determined. PG levels during OGTT gradually increased during dietary therapy and, at the age of 48, insulin treatment was started [PG level at 120 min during OGTT at 46 yr (before treatment) was 1.5 times that at 34 yr]. Insulin secretion had also gradually decreased during the follow-up period (sum of IRI at 34 yr during OGTT post-treatment; 550.8 IU/ml, sum of IRI at 50 yr during OGTT post-treatment; 244.5 IU/ml). However, the insulinogenic indices were maintained at almost the same level value. Our results indicate that insufficient insulin secretion, which could not overcome insulin resistance, might play a crucial role in the pathophysiology and progression of diabetes in WS along with insulin resistance due to a post-receptor defect.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
3/18. Enhanced intra-abdominal visceral fat accumulation in patients with Werner's syndrome.OBJECTIVE: Studies were made on the abnormality of glucose and lipid metabolism and its cause in four patients with Werner's syndrome to infer the reason for accelerated atherogenesis in this syndrome. RESULTS: Of these four patients, hypercholesterolemia was found in three, hypertriglyceridemia in four, hypoalphalipoproteinemia in two and hypertension in two. All the patients had insulin-resistant diabetes mellitus and three of them had apparent hyperinsulinemia. Abdominal computed tomography revealed that all of them had visceral fat obesity, namely augumented intra-abdominal adipose tissue. CONCLUSION: The clinical features of these patients resemble those recently designated as insulin resistant syndrome (syndrome X) or visceral fat syndrome. The metabolic abnormality may be one of important factors in the accelerated atherogenesis in this syndrome.- - - - - - - - - - ranking = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
4/18. A novel mutation in a patient with Werner's syndrome.BACKGROUND: Werner's syndrome, a rare autosomal recessive disorder, is characterized by features of premature aging. Seventy-five percent of the alleles of Japanese patients with Werner's syndrome have one of three major mutations. OBJECTIVE: To determine the genotype of a patient with Werner's syndrome. methods: We diagnosed Werner's syndrome in a 47-year-old Japanese man who had juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, a high-pitched voice, characteristic bird-like appearance of the face with a beak-shaped nose, thinning of the skin over the whole body and hyperkeratoses on the soles of the feet, hyperlipidemia, and diabetes mellitus. None of his immediate family had entered into a consanguineous marriage. He had undergone surgery to treat duodenal perforation. We screened his family for three major mutations (mutations 1, 4, 6) in the WRN gene by polymerase chain reaction-restriction fragment length polymorphism. Automated dna sequencing fluorescence-labeled dideoxy terminators proceeded for abnormally migrating bands. RESULTS: The patient and his mother had mutation 1 (nonsense mutation) in one chromosome. Although mutations 4 and 6 were undetectable, screening for mutation 4 revealed an abnormally migrating band. Consequently, we discovered a novel 4-bp deletion in exon 25 only in the patient. This mutation was not detected in any other family member. CONCLUSION: This is the first description of a patient with Werner's syndrome who has a compound heterozygote of mutation 1 and a novel deletion mutation.- - - - - - - - - - ranking = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
5/18. Effect of insulin on the proline transport activity in cultured fibroblasts from patients with werner syndrome.The effect of insulin on the transport of proline has been studied in cultured fibroblasts from normal individuals, non-insulin-dependent diabetic patients, and patients with werner syndrome. In fibroblasts from normal individuals and those with diabetes mellitus, incubation with 10(-7) M insulin resulted in more than a twofold increase in the transport rate after about 14 h incubation. In contrast, fibroblasts from patients with werner syndrome had a markedly attenuated response to insulin, suggesting a defect in insulin action on the transport of this amino acid in werner syndrome.- - - - - - - - - - ranking = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
6/18. 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 = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
7/18. A possible case of werner syndrome presenting with multiple cancers.The treatment of a man with six metachronous primary cancers is described. The primary lesions were in the soft palate, both edges of the tongue, the hard palate, the esophagus, and the right ureter. Pathologically, all of the first five tumors in the head and neck and esophagus were proven to be squamous cell carcinoma with various grades of differentiation, and the last one was transitional cell carcinoma. The cancers were found in the early clinical stage, and were completely controlled one by one except for the ureteral tumor under treatment. His characteristic medical history and physical findings, i.e. bilateral cataracts, short stature, baldness, diabetes mellitus, high-pitched voice, and multiple malignancies, met the clinical criteria for possible werner syndrome, a genetic premature aging disorder, though the possibility of phenocopy of this syndrome has not been ruled out. We have followed him carefully because he might be vulnerable to malignant tumor formation.- - - - - - - - - - ranking = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
8/18. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.CONTEXT: A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes. OBJECTIVE: The objective of the study was to carry out detailed phenotyping of these two women by evaluating the pattern of fat loss using anthropometry, dual-energy x-ray absorptiometry (DEXA), and magnetic resonance imaging (MRI) and study metabolic abnormalities in glucose and lipid metabolism. DESIGN: The study consisted of descriptive case reports. SETTING: The study was conducted at a referral center. patients: Patient 1 was a 23-yr-old African-American female with progeroid features. Patient 2 was a 24-yr-old Caucasian female with generalized lipodystrophy, hypertriglyceridemia, and severe insulin resistance diabetes who required more than 200 U of insulin daily. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: body fat distribution to characterize pattern of lipodystrophy and nuclear morphology abnormalities in skin fibroblasts were studied. RESULTS: Patient 1 had normal body fat (27%) by DEXA. However, MRI revealed relative paucity of sc fat in the distal extremities, with preservation of sc truncal fat. She had impaired glucose tolerance and elevated postprandial serum insulin levels. Patient 2, in contrast, had only 11.6% body fat as determined by DEXA and had generalized loss of sc and intraabdominal fat on MRI. skin fibroblasts from patient 2 showed marked abnormal nuclear morphology, compared with those from patient 1. Despite the deranged nuclear morphology, the lamin A/C remained localized to the nuclear envelope, and the nuclear dna remained within the nucleus. CONCLUSIONS: Atypical Werner's syndrome associated with Arg133Leu mutation in the LMNA gene presents with a phenotypically heterogeneous disorder. Furthermore, the severity of metabolic complications seems to correlate with the extent of lipodystrophy.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
9/18. A new familial syndrome with impaired function of three related peptide growth factors.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.- - - - - - - - - - ranking = 6.2051541363215keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
10/18. werner syndrome.A case of werner syndrome is reported. The patient was prematurely old, had skin atrophy, characteristic posterior subcapsular cataracts and prepubertal primary hypogonadism. Additional ocular features compatible with premature ageing included presbyopia, arcus seniles and diminished tear flow. diabetes mellitus, poliosis, baldness and beak-like nose were not present.- - - - - - - - - - ranking = 0.94901673294037keywords = mellitus (Clic here for more details about this article) |
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