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521.
CELSR2, encoding a planar cell polarity protein,is a putative gene in Joubert syndrome with cortical heterotopia,microophthalmia, and growth hormone deficiency 下载免费PDF全文
Thierry Vilboux May Christine V. Malicdan Joseph C. Roney Andrew R. Cullinane Joshi Stephen Deniz Yildirimli Joy Bryant Roxanne Fischer Meghana Vemulapalli James C. Mullikin NISC Comparative Sequencing Program Peter J. Steinbach William A. Gahl Meral Gunay‐Aygun 《American journal of medical genetics. Part A》2017,173(3):661-666
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A full blood count is a routine, inexpensive and easy test that provides information about formed blood contents. The platelet-lymphocyte ratio (PLR) is a novel inflammatory marker, which may be used in many diseases for predicting inflammation and mortality. The PLR can be easily calculated and is widely available but it may be affected by several inflammatory conditions. Recent studies show that a high PLR reflects inflammation, atherosclerosis and platelet activation. More research is needed to determine how the PLR may be used in clinical practice. 相似文献
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Yusuf Savran Ismail Sari Didem Leyla Kozaci Necati Gunay Fatos Onen Servet Akar 《International journal of medical sciences》2013,10(7):836-839
Objective: To determine the level of macrophage migration inhibitory factor (MIF), its relationship with Mediterranean fever (MEFV) gene mutations and oxidative stress in familial Mediterranean fever (FMF).Methods: Fifty one unrelated attack free FMF patients (24 M and 27 F, 32.8±8.7 years) and 30 healthy controls (16 M and 14 F, 32.7±7 years) were included in the study. Serum MIF, total oxidant status (TOS) and total anti-oxidant status (TAS) were studied.Results: Age, sex distribution, anthropometrical indices, smoking status, serum lipids and TAS concentrations were similar between the patients and controls. However; erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), MIF, and TOS were significantly higher in the patients'' group compared with healthy subjects. MIF, TOS and TAS levels were not different between patients with or without M694V mutations.Conclusion: We found increased concentrations of MIF in patients with FMF. Increased MIF levels were significantly correlated with oxidative stress and in regression analysis MIF concentrations were independent from the inflammatory activity as assessed by ESR and CRP. M694V mutations seem no effect on MIF and oxidative stress. 相似文献
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Gunay O Onur E Yilmaz O Dundar PE Tikiz C Var A Yuksel H 《Allergologia et immunopathologia》2012,40(1):20-24
BackgroundThe aim of this study was to investigate the influence of exercise training on oxidative stress and markers of lung inflammation in children with asthma.MethodsThirty children aged 8-13 years diagnosed with asthma were enrolled in the study as well as 13 healthy children. One group received only pharmacological treatment and the other group was also enrolled in an exercise programme. Venous blood and 24-hour urine samples were obtained from the children enrolled in the study at the beginning and end of the study. Leukotriene E4 and creatinine levels were measured in the urine and matrix metallopeptidase (MMP-9), endothelin-1(ET-1), malnodialdehyde (MDA), IgE and specific IgE levels were measured in blood samples.ResultsLeukotriene E4, MDA and MMP9 levels decreased significantly with treatment in both groups (p<0.001). However, ET-1 levels decreased significant only in the exercise group (26.5 ± 3.6 vs 21.3 ± 2.4pg/ml respectively, p=0.001). Moreover, ET-1 levels were found to be significantly lower in the exercise group compared to the only pharmacotherapy group (24.2 ± 3.1 vs 21.3 ± 2.4pg/ml, p=0.007).ConclusionsPositive influences of exercise training in children with asthma may be mediated by decrease in ET-1 levels. 相似文献
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Mehmet Taylan Pekoz Kezban Aslan-Kara Betül Tekin Candan Gurses Seher Naz Yeni Hacer Bozdemir Selda Keskin-Guler Dilek Ataklı Gunay Gul Fulya Eren Hüseyin Sarı Zeynep Baştug Gul Ayten Ceyhan-Dirican Fatma Genc Yasemin Bicer-Gomceli Cigdem Ozkara Sakir Delil Arife Cimen Atalar Nerses Bebek Betül Baykan İbrahim Bora Aylin Bican-Demir Cemile Handan Mısırlı Kemal Tutkavul Sibel K. Velioglu Demet Ilhan-Algin Oguz Erdinc Serap Saygi Irsel Tezer-Fılık Ebru Apaydın-Dogan Ali Akyol Ozden Kamisli A. Destina Yalcın Gonul Cakmak Alevtina Ersoy Sibel Ustun-Ozek Gulistan Halac Gulnihal Kutlu Aygul Tantik-Pak Sevinc P. Yücel 《Epilepsia》2023,64(9):2310-2321
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