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排序方式: 共有617条查询结果,搜索用时 15 毫秒
1.
John Timothy Wright Mary Fete Holm Schneider Madelaine Zinser Maranke I. Koster Angus J. Clarke Smail Hadj‐Rabia Gianluca Tadini Nina Pagnan Atila F. Visinoni Birgitta Bergendal Becky Abbott Timothy Fete Clark Stanford Clayton Butcher Rena N. D'Souza Virginia P. Sybert Maria I. Morasso 《American journal of medical genetics. Part A》2019,179(3):442-447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). 相似文献
2.
Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
3.
Rabia Hussain Dalia M. Dawoud Zaheer-Ud-Din Babar 《Research in social & administrative pharmacy》2021,17(1):1920-1924
Countries around the globe have responded to pandemic preparedness and developed strategies to cope with the COVID-19 crisis. In this context, the role of healthcare professionals is of paramount importance. Pharmacists are playing a vital role in dealing, preparedness, prevention, protection, promoting access to medicines and to improve health outcomes during this crisis. In this context, “Drive-thru” pharmacy services improve access to medicines while ensuring the preventive measures suggested by the World Health Organization. This commentary provides an overview of opportunities and challenges related to the implementation of “drive-thru pharmacy services” and their role in improving public health during this crisis. 相似文献
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Ectasia and severe atherosclerosis: relationships with chlamydia pneumoniae, helicobacterpylori, and inflammatory markers 总被引:2,自引:0,他引:2
Adiloglu AK Can R Nazli C Ocal A Ergene O Tinaz G Kisioglu N 《Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital》2005,32(1):21-27
To date, there has been no convincing evidence for an association between Chlamydia pneumoniae or Helicobacter pylori and ectasia. In this case-control study, we have investigated the association of H. pylori and C. pneumoniae seropositivity with ectasia, severe coronary atherosclerosis, and normal vessels, which were so classified by coronary angiography. We have also evaluated the influence of these infections on inflammatory markers such as high-sensitive C-reactive protein (hsCRP) and interleukin 6 (IL-6). Of the 796 patients undergoing coronary angiography for suspected ischemic heart disease, 244 patients were recruited. Of these, 91 had normal vessels, 88 had 3 or more obstructed vessels, and 65 had ectatic vessels without atherosclerosis. Eighty-seven atherosclerotic patients (98.9%) were positive for C. pneumoniae IgG, as were 64 ectatic patients (98.5%) and 76 controls (83.5%) (P < 0.001). Forty-two atherosclerotic patients (47.7%) were positive for C. pneumoniae IgM, as were 43 ectatic patients (66.2%) and 43 controls (47.3%) (P = 0.036). Seventy-two atherosclerotic patients (81.8%) were positive for H. pylori IgA, as were 26 ectatic patients (40.0%) and 44 controls (48.4%) (P < 0.001). High-sensitive CRP levels were significantly higher in ectatic patients (5.639 mg/L) than in controls (4.390 mg/L) (P = 0.032), and IL-6 levels were significantly higher in atherosclerotic patients (33.92 U/L) than in controls (14.01 U/L) (P < 0.001). Interleukin-6 levels were higher in H. pylori seropositive patients, and hsCRP levels were higher in C. pneumoniae seropositive patients, when compared with seronegatives. We suggest that, as in atherosclerosis, C. pneumoniae infection is related to ectasia, with raised CRP levels. 相似文献
7.
Muammer Ozcimen Yasar Sakarya Sertan Goktas Rabia Sakarya Ismail Alpfidan Halil I. Yener 《Cutaneous and ocular toxicology》2015,34(4):313-317
Objective: The purpose of this study was to examine the vasoreactivity in retina and choroid of the healthy eyes in response to experimentally altered partial arterial pressure of carbon dioxide (PaCO2) using a non-invasive technique, spectral domain optical coherence tomography (SD-OCT).Materials and methods: The study included non-smoking participants between 18 and 35 years of age, having visual acuity of 20/20 and with no systemic and ocular diseases. At baseline, the participants breathed room air (normocapnia). Hypocapnia was created with the help of hyperventilation; for this, the participants were instructed to draw deep and quick breaths, resulting one breathing cycle per 2?s. To create hypercapnia subjects rebreathed from a 5?l bag at least 3?min. Choroidal thickness and retinal artery diameter were measured at baseline, and hyperventilation and rebreathing conditions by SD-OCT.Results: Twenty eyes of 20 healthy subjects were included in this study. Their mean age was 24.90?±?5.32 years. Hyperventilation caused a significant reduction in choroidal thickness, compared with baseline, at all points; whereas rebreathing caused no significant change at all points. The mean diameters of the arteries were 151.80?±?7.88?μm, with a significant decline to 148.90?±?7.25?μm at hyperventilation condition and a significant increase to 153.50?±?7.88?μm at rebreathing condition (p?=?0.018, p?=?0.043, respectively).Conclusion: This study demonstrated that, SD-OCT was a useful tool in measuring the ocular vascular response under hypercapnia and hypocapnia conditions. These findings may be helpful for further understanding the physiological nature of ocular blood flow and this preliminary study provides a basis for future studies. 相似文献
8.
Alibaz-Oner Fatma Ergelen Rabia Ergenc Ilkay Seven Gizem Yazıcı Ayten Cefle Ayse Bes Cemal Atug Ozlen Direskeneli Haner 《Digestive diseases and sciences》2021,66(8):2750-2755
Digestive Diseases and Sciences - Behçet’s disease (BD) and Crohn’s disease (CD) cannot be easily differentiated in young adults presenting with nonspecific gastrointestinal (GI)... 相似文献
9.
Rabia Akan Karolis Parfeniukas Carmen Vogt Muhammet S. Toprak Ulrich Vogt 《RSC advances》2018,8(23):12628
Metal-assisted chemical etching (MACE) reaction parameters were investigated for the fabrication of specially designed silicon-based X-ray zone plate nanostructures using a gold catalyst pattern and etching solutions composed of HF and H2O2. Etching depth, zone verticality and zone roughness were studied as a function of etching solution composition, temperature and processing time. Homogeneous, vertical etching with increasing depth is observed at increasing H2O2 concentrations and elevated processing temperatures, implying a balance in the hole injection and silica dissolution kinetics at the gold–silicon interface. The etching depth decreases and zone roughness increases at the highest investigated H2O2 concentration and temperature. Possible reasons for these observations are discussed based on reaction chemistry and zone plate design. Optimum MACE conditions are found at HF : H2O2 concentrations of 4.7 M : 0.68 M and room temperature with an etching rate of ≈0.7 μm min−1, which is about an order of magnitude higher than previous reports. Moreover, our results show that a grid catalyst design is important for successful fabrication of vertical high aspect ratio silicon nanostructures.Specially designed X-ray zone plates with high aspect-ratios have been fabricated via metal-assisted chemical etching, by controlling the reaction kinetics. 相似文献
10.
Incorporation of resident macrophages in engineered tissues: Multiple cell type response to microenvironment controlled macrophage‐laden gelatine hydrogels
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Camille Dollinger Sait Ciftci Helena Knopf‐Marques Rabia Guner Amir M. Ghaemmaghami Christian Debry Julien Barthes Nihal Engin Vrana 《Journal of tissue engineering and regenerative medicine》2018,12(2):330-340
The success of tissue engineering strategy is strongly related to the inflammatory response, mainly through the activity of macrophages that are key cells in initial immune response to implants. For engineered tissues, the presence of resident macrophages can be beneficial for maintenance of homeostasis and healing. Thus, incorporation of macrophages in engineered tissues can facilitate the integration upon implantation. In this study, an in‐vitro model of interaction was developed between encapsulated naive monocytes, macrophages induced with M1/M2 stimulation and incoming cells for immune assisted tissue engineering applications. To mimic the wound healing cascade, naive THP‐1 monocytes, endothelial cells and fibroblasts were seeded on the gels as incoming cells. The interaction was first monitored in the absence of the gels. To mimic resident macrophages, THP‐1 cells were encapsulated in the presence or absence of IL‐4 to control their phenotype and then these hydrogels were seeded with incoming cells. Without encapsulation, activated macrophages induce apoptosis in endothelial cells. Once encapsulated no adverse effects were seen. Macrophage‐laden hydrogels attracted more endothelial cells and fibroblasts compared to monocytes‐laden hydrogels. The induction (M2 stimulation) of encapsulated macrophages did not change the overall number of attracted cells; but significantly affected their morphology. M1 stimulation by a defined media resulted in more secretion of both pro‐ and anti‐inflammatory cytokines compared to M2 stimulation. It was demonstrated that there is a distinct effect of encapsulated macrophages on the behaviour of the incoming cells; this effect can be harnessed to establish a microenvironment more prone to regeneration upon implantation. 相似文献