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41.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure,congenital heart defect,underdeveloped cerebellar vermis,abnormal cutaneous elasticity and joint laxity 下载免费PDF全文
Vincenzo Salpietro Martino Ruggieri Kshitij Mankad Gabriella Di Rosa Francesca Granata Italia Loddo Emanuela Moschella Maria Pia Calabro Anna Capalbo Laura Bernardini Antonio Novelli Agata Polizzi Daniela G. Seidler Teresa Arrigo Silvana Briuglia 《American journal of medical genetics. Part A》2015,167(9):2042-2051
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Redox state constitutes an important background of numerous liver disorders. The redox state participates in the course of inflammatory, metabolic and proliferative liver diseases. Reactive oxygen species (ROS) are primarily produced in the mitochondria and in the endoplasmic reticulum of hepatocytes via the cytochrome P450 enzymes. Under the proper conditions, cells are equipped with special molecular strategies that control the level of oxidative stress and maintain a balance between oxidant and antioxidant particles. Oxidative stress represents an imbalance between oxidant and antioxidant agents. Hepatocytic proteins, lipids and DNA are among the cellular structures that are primarily affected by ROS and reactive nitrogen species. The process results in structural and functional abnormalities in the liver. Thus, the phenomenon of oxidative stress should be investigated for several reasons. First, it may explain the pathogenesis of various liver disorders. Moreover, monitoring oxidative markers among hepatocytes offers the potential to diagnose the degree of liver damage and ultimately to observe the response to pharmacological therapies. The present report focuses on the role of oxidative stress in selected liver diseases. 相似文献
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Nadia Sawicka-Gutaj Aleksandra Klimowicz Jerzy Sowinski Robert Oleksa Maria Gryczynska Anna Wyszomirska Agata Czarnywojtek Marek Ruchala 《Annales d'endocrinologie》2014
Objectives
The aim of the study was to assess the frequency of pyramidal lobe (PL) detected in iodine-131 (I-131) scans of thyroid bed in patients after thyroidectomy for differentiated thyroid cancer (DTC) and to investigate influence of PL on endogenous thyrotropin (TSH) stimulation as well as on the effects of the radio-iodine ablation in one-year follow-up.Patients and methods
This study was designed as a retrospective analysis of 302 radio-iodine neck scans of patients thyroidectomized due to DTC. The study population was selected from patients with PL detected in thyroid bed scintigraphy. Patients without PL were included to the control group. The study and the control groups did not differ in age, sex of patients, histological type and stage of the DTC.Results
Pyramidal lobes were found in 30.5% of all patients. Patients in the study group underwent repeat surgery more often than controls without PL. Preablative TSH level in patients with PL was statistically lower than in the control group, in contrast to free thyroid hormones, which were higher in patients with PL. Preablative and postablative TSH-stimulated thyroglobulin (Tg) and antibodies against thyroglobulin (TgAbs) were measured in both groups, and comparison did not reveal differences. Moreover, for the per-patient analysis, sites of uptake in whole body scintigraphy performed 1 year after radio-iodine remnant ablation (RRA) did not differ between the study and the control groups.Conclusion
Pyramidal lobe decreases endogenous TSH stimulation without impact on radio-iodine therapy outcome in patients with DTC. 相似文献45.
We report a case of a 59 year-old patient in a condition of acute myocardial infarction with ST elevation, in a cardiogenic shock, with multiple cardiac arrests in mechanism of ventricular fibrillation with a significant chest wall deformity caused by Heine-Medin disease in childhood. To our knowledge, this is the first case report of a patient in critical condition with a considerable pectus deformity after poliomyelitis who needed to undergo cardiovascular angioplasty. Although severe patient's condition and numerous difficulties during percutaneous coronary intervention, therapy was successful. 相似文献
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Inoue M Ebisawa K Itaya T Sugito T Yamawaki-Ogata A Sumita Y Wadagaki R Narita Y Agata H Kagami H Ueda M 《Oral diseases》2012,18(2):206-212
Oral Diseases (2012) 18 , 206–212 Objectives: The effect of growth differentiation factor 5 and bone morphogenetic protein 2 on human periodontal ligament‐derived cells was investigated with special reference to tendo/ligamentogenesis‐related markers. Materials and Methods: Effects of each factor were analyzed by quantitative PCR for scleraxis and tenomodulin and by western blotting for scleraxis. After exposure to those factors, STRO‐1‐positive and STRO‐1‐negative fractions of human periodontal ligament tissues were isolated with an immunomagnetic cell sorting system, and the expression of scleraxis in each fraction was analyzed by western blotting. Non‐separated crude cells were used as a control. Results: Growth differentiation factor 5 and bone morphogenetic protein 2 did not increase alkaline phosphatase activity in crude periodontal ligament‐derived cells. Growth differentiation factor 5, but not bone morphogenetic protein 2, increased the expression of scleraxis in crude, STRO‐1‐positive and STRO‐1‐negative periodontal ligament‐derived cells. The expression of scleraxis in STRO‐1‐positive periodontal ligament‐derived cells was significantly less compared to that in crude P2 and STRO‐1‐negative periodontal ligament‐derived cells. Conclusion: Growth differentiation factor 5 induced the expression of scleraxis and may enhance tendo/ligamentogenesis in human periodontal ligament‐derived cells. The expression of scleraxis was higher in STRO‐1‐negative fraction, suggesting more differentiated state of the cells. 相似文献
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Karolina Wojtczak-Soska Tadeusz Pietrucha Agata Sakowicz Malgorzata Lelonek 《Archives of Medical Science》2013,9(1):21-26
Introduction
ST2 protein is the interleukin 33 (IL-33) receptor, whose serum level depends on the biomechanical strain of cardiac myocytes. The aim of this study was to analyse the relationship between soluble ST2 (sST2) level and traditional factors in patients with chronic heart failure.Material and methods
Sixty-six patients (mean age 62 years, 75% males) in stable NYHA class I-III with left ventricular ejection fraction < 45% were included in the study. Clinical, biochemical, electrocardiographic, echocardiographic and angiographic data were analysed. Patients were divided into groups depending on sST2 median: > 0.28 ng/ml (n = 31) vs. ≤ 0.28 ng/ml (n = 35). sST2 was measured using a quantitative ELISA kit. In order to define factors associated with sST2 levels uni- and multivariate regression analysis was performed.Results
There was no relationship between sST2 levels and age (p = 0.67), body mass index (p = 0.19), hsTnT (p = 0.7) or other analysed parameters (all p > 0.05), except for N-terminal prohormone B-type natriuretic peptide (NT-proBNP). A significant positive correlation between sST2 and NT-proBNP was found (p = 0.013, R = 0.395). Multivariate analysis revealed that the stage of coronary artery disease and NT-proBNP were independent factors associated with sST2 concentration (p = 0.04). Intriguing is the fact that the fewer the sclerotic changes present in arteries, the higher was the sST2 level (β = –0.381, p = 0.04).Conclusions
sST2 protein is independent of traditional factors which usually affect levels of NT-proBNP. In chronic heart failure, sST2 protein may be of greater importance in idiopathic dilated cardiomyopathy than in ischaemic aetiology, which seems to be associated with the molecular mechanism (biomechanical strain) related to sST2. 相似文献49.
Satoshi Hattori Jong-Hoon Park Umon Agata Takayuki Akimoto Masaya Oda Michito Higano Yuki Aikawa Yoshiharu Nabekura Hideyuki Yamato Ikuko Ezawa Naomi Omi 《Calcified tissue international》2013,93(6):540-548
Athletes, in particular endurance athletes and dancers, are chronically exposed to a state of low energy availability due to insufficient dietary energy intake and massive exercise energy expenditure. Low energy availability sometimes causes bone fragility, thereby increasing the risk of bone disorders. Although the decrease in energy availability shows no sexual dimorphism, epidemiological studies have reported that bone disorders are less frequent in male athletes than in female athletes. We hypothesized that bone tissue was not affected by low energy availability in males. The purpose of this study was to examine the influence of food restriction combined with voluntary running training on bone morphology and strength in adult male rats. Fourteen-week-old male Sprague–Dawley rats were divided randomly into four groups: control (C) group, food restriction (R) group, exercise (Ex) group, and food restriction plus exercise (REx) group. For the R and REx groups, 30 % food restriction was carried out in comparison with the C group. Bone strength, bone mineral density (BMD), bone architecture, and bone turnover rate were measured after a 13-week experimental period. Bone strength was not significantly lower in the REx group compared with the C group. BMD and trabecular bone volume showed no difference among groups. These findings indicate that bone morphology and strength were little affected by food restriction combined with exercise training in adult male rats. 相似文献
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