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Classical phenylketonuria (PKU) and hereditary fructose intolerance (HFI) are two inborn errors of metabolism that have an autosomal recessive mode of inheritance. In this paper, we described a 3-year-old girl with PKU and HFI. The occurrence of these two defects in the same patient is thought to be fortuitous and not genetically related since this is the first reported case and the statistical probability of such an occurrence is very low. 相似文献
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Erhard L Ozalp T Citron N Foucher G 《The Journal of hand surgery, European volume》1999,24(5):583-585
Ninety-five hands (86 patients) were treated by endoscopic carpal tunnel release using the technique of Agee. They were the first ones operated on by the senior author (GF) using this technique. The patients were interviewed at a mean follow-up of 4.5 years: 72% of hands were free of symptoms and 94% were described by the patients as functionally normal. Seventeen hands (out of 27) with residual or recurrent symptoms were examined. Nine hands (nine patients) were only partially improved (mean 6.7 on a 10 point scale) and in eight hands (seven patients), some symptoms had recurred after a mean delay of 3.8 years. It was possible to find a second pathology in most of these cases. It is necessary to inform the patient before operation that incomplete relief or recurrence of symptoms can occur after endoscopic carpal tunnel release, as with conventional release. 相似文献
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Urethane is a fermentation by-product and a potent animal carcinogen. Human exposure to urethane occurs through consumption of alcoholic beverages and fermented foods. Recently, CYP2E1 was identified as the primary enzyme responsible for the metabolism of [(14)C]carbonyl-labeled urethane. Subsequently, attenuation of urethane-induced cell proliferation and genotoxicity in CYP2E1-/- mice was reported. The present work compares the metabolism of single versus multiple exposures of CYP2E1-/- and CYP2E1+/+ mice to (14)C-ethyl-labeled urethane. Urethane was administered as a single 10 or 100 mg/kg gavage dose or at 100 mg/kg/day for 5 consecutive days. CYP2E1+/+ mice administered single or multiple doses exhaled 78 to 88% of dose as (14)CO(2)/day. CYP2E1-/- mice eliminated 30 to 38% of a single dose as (14)CO(2) in 24 h and plateaued after day 3 at approximately 52% of dose/day. The concentrations of urethane-derived radioactivity in plasma and tissues were dose-dependent, increased as a function of the number of doses administered, and were significantly higher in CYP2E1-/- versus CYP2E1+/+ mice. Whereas urethane was the main chemical found in the plasma and tissues of CYP2E1-/- mice, it was not detectable in CYP2E1+/+ mice. In conclusion, multiple dosing led to considerable bioaccumulation of urethane in mice of both genotypes; however, greater retention occurred in CYP2E1-/- versus CYP2E1+/+ mice. Furthermore, greater bioaccumulation of (14)C-ethyl-labeled than [(14)C]carbonyl-labeled urethane was observed in mice. Comparison of the metabolism of ethyl-versus carbonyl-labeled urethane was necessary for tracing the source of CO(2) and led us to propose for the first time that C-hydroxylation is a likely pathway of urethane metabolism. 相似文献
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Abu Saifullah Pappu Radhakrishnan Lei Wang Burhan Saeed Forkan Sarker Hom N. Dhakal 《Materials》2022,15(18)
In the rotational moulding industry, non-used, scrap, and waste purge materials have tremendous potential to be reprocessed and applied in skin-foam-skin sandwich structures to replace and reduce the use of virgin polymers. This approach not only encourages the re-use of these waste materials but also significantly contributes to reduce environmental impacts associated with the use of virgin polymers in this sector. The demand of rotationally moulded sandwich structures is rapidly increasing in automotive, marine, and storage tanks, where investigating their impact and after-impact responses are crucial. Hence, this study investigated the low-velocity impact (LVI) and flexure-after-impact (FAI) responses of rotationally moulded sandwich structures manufactured using reprocessed materials. Results obtained from LVI induced damage at two different incident energy levels (15 J, 30 J), and the residual flexural strength of impacted structures evaluated by three-points bending tests were compared with non-reprocessed sandwich structures (virgin materials). The impact damage progression mechanism was characterized using the X-ray micro-computer-tomography technique. Reprocessed sandwiches demonstrated 91% and 66% post-impact residual strength at 15 J and 30 J respectively, while for non-reprocessed sandwiches, these values were calculated as 93% and 88%. Although reprocessed sandwich structures showed a lower performance over non-reprocessed sandwiches, they have a strong potential to be used in sandwich structures for various applications. 相似文献
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Gokcen Gonen MD Semra Ulusoy Kaymak MD Eylem Sahin Cankurtaran MD Ersin Hatice Karslioglu MD Elvan Ozalp MD Haldun Soygur MD PhD 《Journal of psychosocial oncology》2013,31(3):347-358
Suffering comes in many ways for patients confronting cancer. One of these is an unspecifiable fear about death, which is an existential issue. The aim of this study was to investigate the relationship between death anxiety and its correlates in cancer patients. Seventy cancer patients were assessed using SCID-I, Templer's Death Anxiety Scale, the Hospital Anxiety (A) and Depression (D) Scale, the Distress Thermometer, the Visual Analogue Scale for pain (VAS), the Global Assessment of Functioning, and Glock and Stark's Dimensions of Religious Commitment scales, and these assessments were compared between cancer patients with and without death anxiety. Multiple regression analysis was conducted after correlation analysis between death anxiety and sociodemographic and clinical variables. Axis I psychiatric diagnosis, pain scores, and negative believes about what will happen after death were found to be higher in patients having death anxiety than patients not having death anxiety. Also life expectancy was perceived as shortened in patients with death anxiety. Death anxiety was associated with anxiety, depressive symptoms, and beliefs about what will happen after death. In conclusion, death anxiety could not be regarded as a natural consequence of having cancer; it is associated with the unresolved psychological and physical distress. 相似文献
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Mustafa Girgin Burhan Hakan Kanat Refik Ayten Ziya Cetinkaya Zekiye Kanat Ahmet Bozda? Ahmet Turkoglu Yavuz Selim Ilhan 《International surgery》2012,97(4):288-292
Pilonidal disease has been treated surgically and by various other methods for many years. The most important problem associated with such treatment is recurrence, but cosmetic outcome is another important issue that cannot be ignored. Today, crystallized phenol is recognized as a treatment option associated with good medical and cosmetic outcomes. We hypothesized that the addition of laser depilation to crystallized phenol treatment of pilonidal disease might increase the rate of success, and this study aimed to determine if the hypothesis was true. Patients who were treated with crystallized phenol and 755-nm alexandrite laser depilation were retrospectively analyzed. In total, 42 (31 male and 11 female) patients were treated with crystallized phenol and alexandrite laser depilation and were followed up between January 2009 and January 2012. In all, 38 patients (90.5%) had chronic disease and 4 (9.5%) had recurrent disease. Among the patients, 26 (61.9%) recovered following 1 crystallized phenol treatment, and the remaining patients had complete remission following repeated treatment. Some patients needed multiple treatments, even up to 8 times. None of the patients had a recurrence during a mean 24 months (range, 6–30 months) of follow-up. Whatever method of treatment is used for pilonidal disease, hair cleaning positively affects treatment outcome. The present results support the hypothesis that the addition of laser depilation (which provides more permanent and effective depilation than other methods) to crystallized phenol treatment (a non-radical, minimally invasive method associated with very good cosmetic results) can increase the effectiveness of the treatment and also reduce the recurrence rate of the disease. 相似文献
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