1/17. Hoarse voice resulting from premature ageing in Werner's syndrome.Werner's syndrome is characterized by clinical signs of premature ageing. A 42-year-old man presented with three-year history of hoarseness. Also noted were skin atrophy of the face and hands, ulcerations around the ankles, and a history of cataracts. A clinical diagnosis of Werner's syndrome was made. laryngoscopy revealed bowed vocal folds resulting in a spindle-shaped defect with glottal incompetence during phonation. Examination also revealed decreased maximum phonation time and vocal fatigue. At surgery, atrophy of the vocalis muscle was noted. Furthermore, degeneration of muscle fibres was noted in the temporalis muscle. The atrophic changes in the vocal folds that occur with ageing and result in an increased fundamental frequency were seen in this patient. The characteristic hoarseness of Werner's syndrome appears to be the result of premature ageing of the vocal-folds.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
2/17. Revascularization of femoropopliteal artery occlusion in Werner's syndrome. Report of a case and review of surgical literature in cardiovascular lesions.A patient with Werner's syndrome suffering from a chronic ulcer on the right ankle joint underwent femoropopliteal bypass and patch angioplasty combined with endarterectomy of the distal popliteal artery. Postoperative angiography showed satisfactory graft patency and distal run-off, and the ulcer improved. Femoropopliteal occlusive disease in Werner's syndrome tends to have poor run-off and the internal diameter of the popliteal artery with diffuse arteriosclerotic lesion is often too small to facilitate distal anastomosis. Therefore, a conventional bypass procedure is not always effective and an aggressive attitude is essential to obtain sufficient ankle blood pressure and improve the leg ulcer in Werner' syndrome.- - - - - - - - - - ranking = 198.28403209954keywords = leg ulcer, ulcer, leg (Clic here for more details about this article) |
3/17. diagnosis of werner syndrome by immunoblot analysis.werner syndrome (WS) is caused by mutations in the gene encoding RecQ type dna helicase (WRN). We report a 53-year-old Japanese male with WS who initially presented with skin ulcers on the feet and the left elbow. The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts. Immunoblot analysis using a monoclonal antibody directed against the WS gene product dna helicase revealed that the patient's leucocytes lacked this particular molecule, confirming the diagnosis of WS. This new immunoblot system therefore enables the diagnosis of WS to be made without the need to undertake more complex mutational analysis.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
4/17. Neurological complications of Werner's syndrome.patients with Werner's syndrome have the appearance of premature ageing. Neurological complications are usually regarded as uncommon. The neurological manifestations in three patients with cardinal features of Werner's syndrome, including short stature, premature greying and baldness, thin arms and legs, cataracts and scleroderma-like skin changes, are presented. The neurological features included transient ischaemic attacks secondary to atherosclerosis in the common carotid arteries (one patient), sensory peripheral neuropathy (one patient) and peripheral neuropathy with a possible myelopathy (one patient). In one of these patients the diagnosis of Werner's syndrome was not recognised prior to neurological referral. Although neurological disease in patients with Werner's syndrome is uncommon, it may be under-recognised. Some of the neurological complications are secondary to premature cerebrovascular disease, but the pathogenesis of peripheral neuropathy and myelopathy in patients with Werner's syndrome is uncertain.- - - - - - - - - - ranking = 0.13053654553646keywords = leg (Clic here for more details about this article) |
5/17. Chronic leg ulcers in Werner's syndrome.We report two siblings suffered from Werner's syndrome, which is a rare premature aging disorder caused by genetic mutations. They developed premature aging during adolescence with loss and graying of hair, short stature, baldness, atrophic skin, thin extremities, flat feet, 'bird' face and cataracts. Multiple chronic ulcers were noted over the feet in both patients. Healing was prolonged because of atrophic subcutaneous tissue, poor perfusion, impaired fibroblast activity and the loss of normal foot architecture. Treatment of the ulcers was challenging, as flap options were limited over the lower third of the leg and skin grafting was not easy as there was a lack of healthy granulations. However, we have successfully closed the ulcers with Integra artificial skin and ultra-thin split thickness skin grafting with the scalp as donor site. The main purpose of this paper is to alert physicians to this syndrome when treatments are being planned for patients with chronic leg ulcers.- - - - - - - - - - ranking = 984.55069704323keywords = leg ulcer, ulcer, leg (Clic here for more details about this article) |
6/17. Genetic analyses of two cases of Werner's syndrome.We report two cases of Werner's syndrome (WS). First, a 42-year-old Japanese man was referred on suspicion of systemic sclerosis (SSc) because of scleroderma-like skin atrophy and foot ulcers. Second, a 51-year-old woman with malignant fibrous histiocytoma was referred on suspicion of premature aging syndrome. Because both patients had many typical manifestations compatible with WS, we made a clinical diagnosis of WS. Genetic analyses revealed a homozygous mutation, an A deletion at nucleotide 3677 of WS gene (WRN) in the first case and a homozygous mutation, a G to C substitution at one base upstream of exon 26 of WRN in the second case. Both mutations were consistent with those previously reported in Japanese WS patients.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
7/17. Topical PDGF-BB results in limited healing in a patient with Werner's syndrome and chronic leg ulcers.Impaired wound healing is a feature of Werner's syndrome. Treatment of one such patient with painful chronic leg ulcers included topical application of PDGF-BB. Granulation increased slightly, enabling full-thickness skin grafting to take place.- - - - - - - - - - ranking = 981.4201604977keywords = leg ulcer, ulcer, leg (Clic here for more details about this article) |
8/17. Atypical meningioma in werner syndrome: a case report.INTRODUCTION: werner syndrome, or adult progeria, is a rare autosomal recessive disorder caused by a mutation in the werner syndrome Gene belonging to the family of RecQ helicase. Malignant mesenchymal tumours and atherosclerosis are typical causes of death. Intracranial meningiomas are frequently described in these patients. CLINICAL PRESENTATION: We present the case of a 46-year-old man with werner syndrome and a convexity meningioma. The patient had a 2-year history of paresthesia and paresis in his right leg, which had worsened in recent months. He underwent surgery with Simpson grade II removal, with improvement of the slight paresis and no other neurological defects. The patient then underwent radiotherapy (60 Gy).Histological examination revealed an atypical meningioma. cytogenetic analysis showed a hypodiploid clone with a complex karyotype characterized by monosomy 22 and deletion 1p. After 3 years' follow-up no relapses had occurred. CONCLUSION: 1p deletion correlates with meningioma progression and in this case correlates with histological examination. The chromosomal instability underlying werner syndrome could have fostered the complex karyotype.- - - - - - - - - - ranking = 0.13053654553646keywords = leg (Clic here for more details about this article) |
9/17. Repair of elbow defects and the biochemical characteristics of Werner's syndrome.Werner's syndrome is a rare condition of autosomal recessive inheritance associated with features of accelerated aging. We describe 2 patients whose elbow defects were repaired with muscle flap or distally based ulnar recurrent artery flap. Protein analysis for the biopsied skin showed a remarkable increase of abnormal proteins in the range from 40,000 to 60,000 molecular weight. An abnormally low-molecular-weight protein in serum was also detected in the patient, but no abnormal proteins were seen in the urine. It is suggested that Werner's trophic ulcer can be repaired by ordinary skin flap, and we conclude that some abnormal proteins are produced in the Werner's skin and serum.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
10/17. 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 = 196.28403209954keywords = leg ulcer, ulcer, leg (Clic here for more details about this article) |
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