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Prolidase deficiency   总被引:1,自引:0,他引:1  
A 32‐year‐old mentally retarded woman was admitted to hospital with recurrent ulcers on her legs, which appeared for the first time at 8 years of age. Apart from recurrent lower respiratory tract infections and chronic otitis media, her personal history was unremarkable. Her parents were second‐degree relatives. The family history showed no similar disease or mental retardation. Physical examination revealed that the patient had an unusual facial appearance, with a high‐arched palate; she had multiple tooth caries ( Fig. 1 ).
Figure Figure 1  Open in figure viewer PowerPoint Facial appearance of the patient  相似文献   
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his report describes two patients with a known history of Beh?et's disease in whom massive hemoptysis developed from rupture of pulmonary artery aneurysms. The high recurrence rate of complications related to pulmonary artery aneurysms and even the aneurysms themselves due to inadequacy of medical therapy and the disadvantages of surgical treatment make these aneurysms candidates for endovascular management. The pulmonary artery aneurysms reported here were successfully treated with endovascular embolization using n-butyl cyanoacrylate. Pulmonary artery aneurysm embolization in Beh?et's disease has been reviewed in the light of relevant literature.  相似文献   
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BACKGROUND: Sleep complaints are common in end-stage renal disease. We aimed to investigate the relationship between sleep-related complaints and inflammatory cytokines in haemodialysis (HD) patients, and also the effects of HD on sleep patterns and cytokine levels. METHODS: Predialysis serum interleukin-1beta (IL-1beta), interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-alpha) levels in nine patients with sleep complaints were compared with those of nine patients without sleep complaints and nine healthy controls. Patients with sleep complaints underwent polysomnography the night after HD and the following night. RESULTS: Patients with sleep complaints had significantly higher predialysis IL-1beta levels compared with those without and healthy controls (P=0.004 and P=0.000, respectively). They also had higher predialysis IL-6 and TNF-alpha levels than those without sleep complaints; however, the difference was not significant. Patients without sleep complaints had higher mean IL-6 and TNF-alpha and similar mean IL-1beta levels compared with healthy controls (P=0.001, P=0.024, P=0.26, respectively). Obstructive sleep apnoea syndrome (OSAS) was found in six out of nine (66%) patients with sleep complaints. Sleep architecture and cytokine levels did not differ between the two nights. The mean serum IL-1beta, IL-6 and TNF-alpha levels did not differ in the pre- and post-polysomnographic samples. There was no correlation between IL-1beta, IL-6 or TNF-alpha levels and the apnoea-hypopnoea index. CONCLUSIONS: Proinflammatory cytokines, IL-1beta in particular, might be associated with sleep complaints in HD patients. OSAS is not uncommon in HD patients with sleep-related complaints and sleep architecture does not appear to be effected by the HD procedure itself.  相似文献   
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We report the use of a metallic stent in a transplant ureteral stenosis. A 28-year-old man with chronic renal failure due to chronic pyelonephritis, who received a living-donor renal transplant, presented with transplant ureteral stenosis. The stenosis was unresponsive to balloon dilation and was treated by antegrade placement of a self-expanding Memotherm stent. The stented ureter stayed patent for 3 years. It may be reasonable to treat post-transplant ureteral stenosis resistant to balloon dilation with self-expanding metallic stents. However, long-term follow-up is required to evaluate the efficacy of this treatment.  相似文献   
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Gabapentin is one of the new antiepileptic drugs (AEDs) launched recently. The advantage of new AEDs includes newer mechanism of action, broad spectrum of antiseizure effects, lesser drug interactions and fewer side effects. Gabapentin (GBP) a GABA analogue, is efficacious in several neurological and psychiatric conditions and it is conventionally used in the treatment of partial epilepsies. In this study, we aimed to evaluate the effects of GBP on learning and memory processes of naive mice in Morris water maze (MWM), passive avoidance (PA) and modified elevated plus maze (mEPM) tests. GBP (5 and 10mg/kg, i.p.) was administered on the probe trial of MWM and on the acquisation session of PA and mEPM tests. In the MWM test, GBP (10mg/kg) significantly increased the time spent in target quadrant and GBP (5 and 10mg/kg) significantly decreased the distance to platform compared to control group. In the mEPM test, GBP (5 and 10mg/kg) significantly decreased the transfer latency compared to control group on the second day and in the PA test, GBP (5 and 10mg/kg) significantly prolonged retention latency compared to control group. Our results indicate that GBP has improving effects on spatial and emotional cognitive performance of naive mice in MWM, PA and mEPM tasks.  相似文献   
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